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Article

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

Journal of inherited metabolic disease - 1 Dec 2010

Ballhausen Diana, Guerry Frédéric, Hahn Dagmar, Schaller André, Nuoffer Jean-Marc, Bonafé Luisa, Jeannet Pierre-Yves, Jacquemont Sebastien

Abstract excerpt

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G is associated with respiratory chain complex I deficiency and has been described as a rare cause of mostly adult-onset slowly progressive myopathy. Five families with 11 patients have been described so far; 5 of them died young due to cardiorespiratory failure. Here, we report on a segregation study in a family with an index patient who already presented at the...

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Identifiers

PMID: 20458543
DOI: 10.1007/s10545-010-9098-2

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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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