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Article

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.

Journal of biomedical science - 1 Jan 2002

Huang Chin-Chang, Kuo Hung-Chou, Chu Chen-Che, Liou Chia-Wei, Ma Yi-Shing, Wei Yau-Huei

Abstract excerpt

We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic epilepsy with ragged-red fibers (MERRF) and 26 maternal family members who carried either the A3243G or A8344G mutation of mitochondrial DNA (mtDNA). Clinical...

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Identifiers

PMID: 12372990
DOI: 10.1159/000064725

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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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Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.PMID 12372990Read ↗

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Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.Semantic proximity Read ↗

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[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].Semantic proximity Read ↗

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.Semantic proximity Read ↗

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