A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Adolescent Biopsy DNA, Mitochondrial / genetics Humans Male Mitochondria / genetics Mitochondrial Myopathies / diagnosis Muscle Weakness / pathology Muscle, Skeletal / pathology Mutation / genetics
Congenital myasthenia syndromes (CMS) MTTY gene Mitochondrial disease Muscle biopsy mtDNA tRNA variant

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
08 2020
Historique:
received: 09 01 2020
revised: 16 06 2020
accepted: 17 06 2020
pubmed: 21 7 2020
medline: 24 8 2021
entrez: 21 7 2020
Statut: ppublish

Résumé

Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNA

Identifiants

DOI: 10.1016/j.nmd.2020.06.008 PMID: 32684384 PMC: PMC7477489
pubmed: 32684384
pii: S0960-8966(20)30158-9
doi: 10.1016/j.nmd.2020.06.008
pmc: PMC7477489
pii:
doi:

Substances chimiques

DNA, Mitochondrial 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

661-668

Subventions

Organisme : Wellcome Trust
ID : 203105/Z/16/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800674
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : L016354
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Informations de copyright

Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

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Auteurs

Albert Z Lim (AZ)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

Grace McMacken (G)

The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Department of Neurosciences, Royal Victoria Hospital, Belfast Health and Social Care Trust, Belfast, UK.

Francesca Rastelli (F)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

Monika Oláhová (M)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Karen Baty (K)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.

Sila Hopton (S)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.

Gavin Falkous (G)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.

Ana Töpf (A)

The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.

Hanns Lochmüller (H)

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Canada; Division of Neurology, Department of Medicine, Ottawa University, Ottawa, Canada.

Chiara Marini-Bettolo (C)

The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.

Robert McFarland (R)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: robert.mcfarland@ncl.ac.uk.

Robert W Taylor (RW)

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytodiagnostic › Biopsie › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Myopathies mitochondriales › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Faiblesse musculaire › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › A novel, pathogenic dinucleotide deletion in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel, pathogenic dinucleotide deletion in...