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Article

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Journal of human genetics - 1 Jul 2014

Negishi Yutaka, Hattori Ayako, Takeshita Eri, Sakai Chika, Ando Naoki, Ito Tetsuya, Goto Yu-ichi, Saitoh Shinji

Abstract excerpt

Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene. The siblings' phenotypically normal mother had the same, albeit heteroplasmic, mutation. Complex I deficiency (8% of average control values) was demonstrated in a biceps brachii muscle from one of the patients. Heteroplasmic m.3697G>A has been reported in patients with Leber's...

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Source

Identifiers

PMID: 24830958
DOI: 10.1038/jhg.2014.41

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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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