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Adult-Onset Leigh Syndrome Due to an m.13513G>A Mutation.

Internal medicine (Tokyo, Japan) - 15 May 2022

Hirosawa Hiroaki, Nukui Takamasa, Noguchi Kyo, Nakatsuji Yuji

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DNA, Mitochondrial
Leigh Disease
Mutation
Optic Atrophies, Hereditary

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34670906
DOI: 10.2169/internalmedicine.8445-21
PMCID: PMC9177365

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Adult-Onset Leigh Syndrome Due to an m.13513G>A Mutation.PMID 34670906Read ↗

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Before Leigh syndrome can be attributed to m.1608G≥A in MT-TV, its pathogenicity must be confirmed.Semantic proximity Read ↗

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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.Semantic proximity Read ↗

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