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Article

Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.

Zhonghua yi xue za zhi = Chinese medical journal; Free China ed - 1 Jan 2000

Thajeb P, Lee H C, Pang C Y, Jeng C M, Huang S F, Wei Y H

Abstract excerpt

The A3243G mutation of mitochondrial DNA (mtDNA) has been shown to be responsible for or associated with mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes (MELAS) syndrome, diabetes mellitus (DM) and several other neuromuscular diseases. We used polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) to identify the A3243G mtDNA mutation and an electron...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10645055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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