Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA
Mitochondria
Pathogenicity
Progressive external ophthalmoplegia
de novo mutation
tRNA Pro
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
20
11
2019
revised:
11
02
2020
accepted:
27
02
2020
pubmed:
20
4
2020
medline:
27
7
2021
entrez:
20
4
2020
Statut:
ppublish
Résumé
Progressive external ophthalmoplegia is typically associated with single or multiple mtDNA deletions but occasionally mtDNA single nucleotide variants within mitochondrial transfer RNAs (mt-tRNAs) are identified. We report a 34-year-old female sporadic patient with progressive external ophthalmoplegia accompanied by exercise intolerance but neither fixed weakness nor multisystemic involvement. Histopathologically, abundant COX-deficient fibres were present in muscle with immunofluorescence analysis confirming the loss of mitochondrial complex I and IV proteins. Molecular genetic analysis identified a rare heteroplasmic m.15990C>T mt-tRNA
Identifiants
pubmed: 32305257
pii: S0960-8966(20)30061-4
doi: 10.1016/j.nmd.2020.02.020
pii:
doi:
Substances chimiques
RNA, Mitochondrial
0
RNA, Transfer
9014-25-9
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
346-350Subventions
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.