A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., DiMauro, S.
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914622/
https://ncbi.nlm.nih.gov/pubmed/8651277
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!