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Article

Two new mutations in the MTATP6 gene associated with Leigh syndrome.

Neuropediatrics - 1 Oct 2005

Moslemi A-R, Darin N, Tulinius M, Oldfors A, Holme E

Abstract excerpt

In this study we have analyzed the mtDNA encoded ATPase 6 and 8 genes ( MTATP6 and MTATP8) in two children with Leigh syndrome (LS) and reduced Mg (2+) ATPase activity in muscle mitochondria. In patient 1, with a mild and reversible phenotype, mutational analysis revealed a heteroplasmic T --> C mutation at nt position 9185 (T9185C) in the MTATP6. The mutation resulted in substitution of a highly conserved...

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Identifiers

PMID: 16217706
DOI: 10.1055/s-2005-872845

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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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