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


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… (More)
DOI: 10.1038/jhg.2014.41

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