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

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Article

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

American journal of human genetics - 1 May 1996

Santorelli F M, Mak S C, El-Schahawi M, Casali C, Shanske S, Baram T Z, Madrid R E, DiMauro S

Abstract excerpt

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...

Topics

Adolescent
Adult
Aged
Base Sequence
Cardiomyopathy, Dilated
Child
Child, Preschool
Female
Hearing Disorders
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

RNA

RNA, Mitochondrial

RNA, Transfer, Lys

Source

Open in PubMed Open full text

Identifiers

PMID: 8651277
PMCID: PMC1914622

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8651277-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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