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Article

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Journal of the neurological sciences - 15 Mar 2010

Coku Jorida, Shanske Sara, Mehrazin Mahsa, Tanji Kurenai, Naini Ali, Emmanuele Valentina, Patterson Marc, Hirano Michio, DiMauro Salvatore

Abstract excerpt

Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the...

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Identifiers

PMID: 20022607
DOI: 10.1016/j.jns.2009.12.001
PMCID: PMC3891822

Genes

UCN

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Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.PMID 20022607Read ↗

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