CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.
Journal
Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
14
12
2017
revised:
22
02
2018
accepted:
23
02
2018
pubmed:
5
3
2018
medline:
14
8
2019
entrez:
5
3
2018
Statut:
ppublish
Résumé
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy and another with pigmentary retinopathy, cataracts and sensory neural deafness and slightly higher heteroplasmy (65%). Here we report that higher muscle mutant heteroplasmy (93%) for m.8340G>A is associated with ptosis, ophthalmoparesis and mitochondrial myopathy, thus confirming the initial phenotypic association and showing that heteroplasmy per se does not explain the phenotypic spectrum of disease associated with the m.8340G>A mutation.
Identifiants
pubmed: 29501485
pii: S1567-7249(17)30331-8
doi: 10.1016/j.mito.2018.02.008
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
69-72Informations de copyright
Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.