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Article

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.

Annals of neurology - 1 Jun 1999

Andreu A L, Tanji K, Bruno C, Hadjigeorgiou G M, Sue C M, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S

Abstract excerpt

We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes reveale...

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Identifiers

PMID: 10360780
DOI: 10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.co;2-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10360780-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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