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Article

Phenotypic heterogeneity within twins with MELAS with epilepsy: Case report.

Medicine - 1 May 2026

Wu Huiru, Wang Yanling, Kong Qingxia

Abstract excerpt

RATIONALE: Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder caused by mutations in mitochondrial DNA, most commonly the m.3243A>G variant. This mutation impairs oxidative phosphorylation, leading to inadequate cellular energy production, particularly in high-demand tissues such as the brain and muscles. The resultant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42065208
DOI: 10.1097/MD.0000000000047264
PMCID: PMC13138488

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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