A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Aged DNA, Mitochondrial / genetics Electron Transport Complex IV / metabolism Female Humans Muscle, Skeletal / metabolism Mutation Ophthalmoplegia, Chronic Progressive External / genetics RNA, Transfer, Met / genetics Severity of Illness Index
Chronic progressive external ophthalmoplegia MTTM Mitochondrial disease Myopathy m.4414T>C mtDNA variant

Journal

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

Informations de publication

Date de publication:
09 2019
Historique:
received: 24 06 2019
revised: 13 08 2019
accepted: 15 08 2019
pubmed: 7 9 2019
medline: 25 8 2020
entrez: 7 9 2019
Statut: ppublish

Résumé

We report a novel mitochondrial m.4414T>C variant in the mt-tRNA

Identifiants

DOI: 10.1016/j.nmd.2019.08.005 PMID: 31488384
pubmed: 31488384
pii: S0960-8966(19)31081-8
doi: 10.1016/j.nmd.2019.08.005
pii:
doi:

Substances chimiques

DNA, Mitochondrial 0
RNA, Transfer, Met 0
Electron Transport Complex IV EC 1.9.3.1

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

693-697

Subventions

Organisme : Medical Research Council
ID : G0800674
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L016354/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203105/Z/16/Z
Pays : United Kingdom

Informations de copyright

Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Auteurs

Debby M E I Hellebrekers (DMEI)

Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands. Electronic address: debby.hellebrekers@mumc.nl.

Emma L Blakely (EL)

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Alexandra T M Hendrickx (ATM)

Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands.

Steven A Hardy (SA)

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Sila Hopton (S)

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Gavin Falkous (G)

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Irenaeus F M de Coo (IFM)

Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; Department of Neurology, Medical Spectrum Twente, Koningsplein 1, 7512 KZ Enschede, the Netherlands.

Hubert J M Smeets (HJM)

Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; MHeNs School for Mental Health and Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands.

Nadine M E van der Beek (NME)

Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.

Robert W Taylor (RW)

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs de cations › Pompes à protons › Complexe IV de la chaîne respiratoire › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › Ophtalmoplégie externe progressive › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › ARN de transfert spécifiques des différents acides aminés › ARN de transfert de la méthionine › A novel mitochondrial m.4414T>C MT-TM gene...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › A novel mitochondrial m.4414T>C MT-TM gene...