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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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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