A Cross-Sectional Study of Nemaline Myopathy.

Actins / genetics Adolescent Adult Child Child, Preschool Cohort Studies Cross-Sectional Studies Disability Evaluation Disease Progression Enteral Nutrition Female Genotype Humans Infant Longitudinal Studies Male Middle Aged Muscle Proteins / genetics Myopathies, Nemaline / genetics Pilot Projects Psychomotor Performance Respiratory Function Tests Sialorrhea / epidemiology Tracheostomy / statistics & numerical data Treatment Outcome Wheelchairs / statistics & numerical data Young Adult

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
09 03 2021
Historique:
received: 28 04 2020
accepted: 07 12 2020
pubmed: 6 1 2021
medline: 23 3 2021
entrez: 5 1 2021
Statut: ppublish

Résumé

Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures. Fifty-seven individuals with NM were recruited at 2 family workshops, including 16 examined at both time points. Participants were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests (PFTs), myometry, goniometry, and bulbar assessments. The most common clinical classification was typical congenital (54%), whereas 42% had more severe presentations. Fifty-eight percent of individuals needed mechanical support, with 26% requiring wheelchair, tracheostomy, and feeding tube. The MFM scale was performed in 44 of 57 participants and showed reduced scores in most with little floor/ceiling effect. Of the 27 individuals completing PFTs, abnormal values were observed in 65%. Last, bulbar function was abnormal in all patients examined, as determined with a novel outcome measure. Genotypes included mutations in We present a comprehensive cross-sectional study of NM. Our data identify significant disabilities and support a relatively stable disease course. We identify a need for further diagnostic investigation for the genetically unresolved group. MFM, PFTs, and the slurp test were identified as promising outcome measures for future clinical trials.

Identifiants

DOI: 10.1212/WNL.0000000000011458 PMID: 33397769 PMC: PMC8055318
pubmed: 33397769
pii: WNL.0000000000011458
doi: 10.1212/WNL.0000000000011458
pmc: PMC8055318
doi:

Substances chimiques

ACTA1 protein, human 0
Actins 0
Muscle Proteins 0
nebulin 02X6KNJ5EE

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1425-e1436

Subventions

Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD075802
Pays : United States

Informations de copyright

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Kimberly Amburgey (K)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Meryl Acker (M)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Samia Saeed (S)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Reshma Amin (R)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Alan H Beggs (AH)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0001-8818-0568

Carsten G Bönnemann (CG)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0002-5930-2324

Michael Brudno (M)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0001-7947-2243

Andrei Constantinescu (A)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Jahannaz Dastgir (J)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Mamadou Diallo (M)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Casie A Genetti (CA)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Michael Glueck (M)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0001-7969-5025

Stacy Hewson (S)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Courtney Hum (C)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0002-0003-6754

Minal S Jain (MS)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Michael W Lawlor (MW)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Oscar H Meyer (OH)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Leslie Nelson (L)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.
ORCID: 0000-0003-3606-5757

Nicole Sultanum (N)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Faiza Syed (F)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Tuyen Tran (T)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

Ching H Wang (CH)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi.

James J Dowling (JJ)

From the Division of Neurology (K.A.), Genetics and Genome Biology (K.A., M.A., J.J.D., M.B., N.S.), Division of Respiratory Medicine (R.A., F.S., T.T.), Centre for Computational Medicine (M.B., N.S.), Division of Emergency Medicine (M.D.), and Division of Clinical and Metabolic Genetics (S.H.), Hospital for Sick Children; Princess Margaret Hospital (S.S.), Department of Medical Oncology and Hematology; University of Toronto (R.A.), Ontario, Canada; The Manton Center for Orphan Disease Research (A.H.B., C.A.G.), Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, MA; National Institute of Neurological Disorders and Stroke (C.G.B.), Neuromuscular and Neurogenetic Disorders of Childhood Section, and Clinical Research Center (M.S.J.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Department of Computer Science (M.B., M.G., N.S.), University of Toronto, Ontario, Canada; Columbia University Irving Medical Center (A.C.), Division of Pediatric Pulmonology, New York, NY; Goryeb Children's Hospital (J.D.), Department of Pediatric Neurology, Morristown, NJ; Mount Sinai Hospital (C.H.), Prenatal Diagnosis and Medical Genetics, Toronto, Ontario, Canada; Medical College of Wisconsin (M.W.L.), Department of Pathology and Laboratory Medicine, Milwaukee; Children's Hospital of Philadelphia (O.H.M.), Division of Pulmonology, PA; UT Southwestern Medical Center (L.N.), Department of Physical Therapy, Dallas, TX; and Driscoll Children's Hospital (C.H.W.), Division of Neurology, Texas A&M University, Corpus Christi. james.dowling@sickkids.ca.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Actines › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études transversales › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Évaluation de l'invalidité › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Évolution de la maladie › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Thérapeutique › Thérapie nutritionnelle › Soutien nutritionnel › Nutrition entérale › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Phénomènes génétiques › Génotype › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études longitudinales › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines contractiles › Protéines du muscle › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myopathies congénitales structurales › Myopathies némaline › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Projets pilotes › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Performance psychomotrice › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic respiratoire › Tests de la fonction respiratoire › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Maladies du système stomatognathique › Maladies de la bouche › Maladies de la glande salivaire › Ptyalisme › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Procédures de chirurgie opératoire › Procédures de chirurgie thoracique › Trachéostomie › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Résultat thérapeutique › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Équipement et fournitures › Dispositifs d'assistance au mouvement › Fauteuils roulants › A Cross-Sectional Study of Nemaline Myopathy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › A Cross-Sectional Study of Nemaline Myopathy.