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Article

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Neuropediatrics - 1 Dec 2007

Childs A-M, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow Y J

Abstract excerpt

We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this...

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PMID: 18461509
DOI: 10.1055/s-2008-1065355

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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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