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Article

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Archives of neurology - 1 Mar 2005

Naini Ali B, Lu Jiesheng, Kaufmann Petra, Bernstein Richard A, Mancuso Michelangelo, Bonilla Eduardo, Hirano Michio, DiMauro Salvatore

Abstract excerpt

BACKGROUND: The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE: To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15767514
DOI: 10.1001/archneur.62.3.473

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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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