Abstract
Pathogenic mutations in the tRNALeu(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 tRNALeu(UCN), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.
Original language | English (US) |
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Pages (from-to) | 166-168 |
Number of pages | 3 |
Journal | Journal of the neurological sciences |
Volume | 290 |
Issue number | 1-2 |
DOIs | |
State | Published - Mar 15 2010 |
Keywords
- Ataxia
- Dementia
- Hearing loss
- Mitochondrial DNA
- tRNALeu(UCN)
ASJC Scopus subject areas
- Neurology
- Clinical Neurology