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Article

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Neurology - 10 Jun 2003

Crimi Marco, Galbiati Sara, Moroni Isabella, Bordoni Andreina, Perini Maria Paola, Lamantea Eleonora, Sciacco Monica, Zeviani Massimo, Biunno Ida, Moggio Maurizio, Scarlato Guglielmo, Comi Giacomo Pietro

Abstract excerpt

A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analys...

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Source

Identifiers

PMID: 12796552
DOI: 10.1212/01.wnl.0000066048.72780.69

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12796552-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.PMID 12796552Read ↗

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.Semantic proximity Read ↗

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