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Article

Mitochondrial mutation status, symptom prevalence, and neuroimaging characteristics in MELAS: a systematic review and meta analysis.

Orphanet journal of rare diseases - 10 Jun 2026

Li Yanyan, Han Siying, Huang Daiyun, Chen Jiayi, Qu Siying, Gu Jinxin, Xu Zhuoyan, Fu Lei, Tang Xiaoyu, Qiao Yixue

Abstract excerpt

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder characterized by a wide range of systemic manifestations. MELAS is challenging to diagnose in its early stages and currently lacks targeted treatments. This systematic review and meta-analysis aim to validate the mitochondrial 3243A > G (m.3243A > G) mutation status, symptom prevalence,...

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Identifiers

PMID: 42271506
DOI: 10.1186/s13023-026-04448-6
PMCID: PMC13487938

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