MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

doi:10.1136/jnnp.57.5.586

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Article

MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Journal of neurology, neurosurgery, and psychiatry - 1 May 1994

Huang C C, Chen R S, Chen C M, Wang H S, Lee C C, Pang C Y, Hsu H S, Lee H C, Wei Y H

Abstract excerpt

The clinical features of a patient in a Chinese family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) are reported. The study revealed that hearing and visual impairments and miscarriages may be early clinical presentations in MELAS. A heteroplasmic A to G transition in the tRNA(Leu(UUR)) gene was noted at the nucleotide pair 3243 in the mitochondrial DNA...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
China
DNA Mutational Analysis
DNA, Mitochondrial
Female
Humans
Infant
MELAS Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

RNA, Transfer, Leu

Source

Open in PubMed Open full text

Identifiers

PMID: 8201329
DOI: 10.1136/jnnp.57.5.586
PMCID: PMC1072920

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8201329-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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