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Article

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

European journal of human genetics : EJHG - 1 Dec 2015

Lehmann Diana, Schubert Kathrin, Joshi Pushpa R, Hardy Steven A, Tuppen Helen A L, Baty Karen, Blakely Emma L, Bamberg Christian, Zierz Stephan, Deschauer Marcus, Taylor Robert W

Abstract excerpt

Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings including cytochrome c oxidase (COX)-deficient fibres. Pyrosequencing confirmed mtDNA heteroplasmy for both mutations...

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Identifiers

PMID: 25873012
DOI: 10.1038/ejhg.2015.73
PMCID: PMC4519577

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Source receipt: pubmed, retrieved 7 Sept 2026.

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