Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently...

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Detalhes bibliográficos
Main Authors: Manouvrier, S, Rötig, A, Hannebique, G, Gheerbrandt, J D, Royer-Legrain, G, Munnich, A, Parent, M, Grünfeld, J P, Largilliere, C, Lombes, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051645/
https://ncbi.nlm.nih.gov/pubmed/7473662
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