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Article

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

Annals of neurology - 1 Jan 2003

Liolitsa Danae, Rahman Shamina, Benton Sarah, Carr Lucinda J, Hanna Michael G

Abstract excerpt

We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A-->G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and a 13045A-->C transversion in a patient with a MELAS/Leber's hereditary optic neuropathy/Leigh's overlap syndrome. Biochemical analysis of muscle...

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Identifiers

PMID: 12509858
DOI: 10.1002/ana.10435

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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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Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?PMID 12509858Read ↗

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Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.Semantic proximity Read ↗

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.Semantic proximity Read ↗

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