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Article

Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.

Mitochondrion - 1 Jul 2007

Zhadanov Sergey I, Grechanina Elena Ya, Grechanina Yulia B, Gusar Vladislava A, Fedoseeva Natalya P, Lebon Sophie, Münnich Alfred, Schurr Theodore G

Abstract excerpt

We report the de novo occurrence of a heteroplasmic 12706T-->C (12705C) ND5 mutation associated with the clinical expression of fatal Leigh syndrome. Phylogenetic analysis of several cases having the 12706C mutation confirmed that this mutation occurred independently in distinctive mtDNA backgrounds. In each of these cases, the low level of heteroplasmy and the association of the mutation with a deleterious...

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Identifiers

PMID: 17317336
DOI: 10.1016/j.mito.2007.01.003

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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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