Novel mutation in

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Jun 2019
Historique:
received: 11 02 2019
accepted: 27 03 2019
entrez: 14 6 2019
pubmed: 14 6 2019
medline: 14 6 2019
Statut: epublish

Résumé

We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. Patients had clinical examinations, muscle MRI, EMG, and muscle biopsy studies. The MYOcap gene panel was used to identify the gene defect in the family. Muscle biopsies were used for histopathologic and protein expression studies, and We identified a novel heterozygous mutation, c.2757delC, in the last part of the transportin-3 ( We report the clinical, molecular genetic, and histopathologic features of the second transportinopathy family. The variability of the clinical phenotype together with histopathologic findings suggests that several molecular pathways may be involved in the disease pathomechanism, such as nucleocytoplasmic shuttling, protein aggregation, and defective protein turnover.

Identifiants

DOI: 10.1212/NXG.0000000000000337 PMID: 31192305 PMC: PMC6515942
pubmed: 31192305
doi: 10.1212/NXG.0000000000000337
pii: NG2019010272
pmc: PMC6515942
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e337

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Auteurs

Anna Vihola (A)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Johanna Palmio (J)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Olof Danielsson (O)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Sini Penttilä (S)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Daniel Louiselle (D)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Sara Pittman (S)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Conrad Weihl (C)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Bjarne Udd (B)

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

Classifications MeSH