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Article

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

Neuromuscular disorders : NMD - 1 May 2005

Pulkes T, Liolitsa D, Eunson L H, Rose M, Nelson I P, Rahman S, Poulton J, Marchington D R, Landon D N, Debono A G, Morgan-Hughes J A, Hanna M G

Abstract excerpt

We performed detailed clinical, histopathological, biochemical, in vitro translation and molecular genetic analysis in patients from two unrelated families harbouring the tRNA(SerUCN) 7472C-insertion mutation. Proband 1 developed a progressive neurodegenerative phenotype characterised by myoclonus, epilepsy, cerebellar ataxia and progressive hearing loss. Proband 2 had a comparatively benign phenotype...

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PMID: 15833431
DOI: 10.1016/j.nmd.2005.01.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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