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Article

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

Neurology - 1 Aug 1997

Campos Y, Martín M A, Rubio J C, Solana L G, García-Benayas C, Terradas J L, Arenas J

Abstract excerpt

A child with clinical and neuroradiologic evidence of Leigh syndrome (LS) had the T-to-C transition at nt 9176 in the ATPase 6 gene of mtDNA. The mutation was homoplasmic in muscle and maternally inherited. The proband's mother had ataxia and harbored 93% of mutant genomes in blood, whereas three clinically unaffected maternal relatives had varying degrees of heteroplasmy in blood. These data confirm the...

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Identifiers

PMID: 9270604
DOI: 10.1212/wnl.49.2.595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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