Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

A novel G8363A mutation in the mtDNA tRNA(Lys) gene was associated, in two unrelated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy. Muscle biopsies from the probands showed mitochondrial proliferation and partial defects of com...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., DiMauro, S.
Format: Artigo
Langue:Inglês
Publié: 1996
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914622/
https://ncbi.nlm.nih.gov/pubmed/8651277
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires