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Article

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Neuromuscular disorders : NMD - 1 Jul 2004

Bidooki Seyed, Jackson Margaret J, Johnson Margaret A, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W, Venables Graham, Lightowlers Robert N, Turnbull Douglass M, Bindoff Laurence A

Abstract excerpt

We describe a young woman with a progressive mitochondrial myopathy that started with muscle weakness and went on to include deafness, dementia and ataxia. Skeletal muscle showed the histological and biochemical features of mitochondrial respiratory chain dysfunction. Genetic analysis identified a novel, heteroplasmic, A to G transition in tRNA(Ser(UCN)) at position 7480 affecting a highly conserved base in the...

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

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Source

Identifiers

PMID: 15210164
DOI: 10.1016/j.nmd.2004.03.004

Genes

UCN

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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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