Abstract
We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNA Asn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic.
Original language | English |
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Pages (from-to) | 815-817 |
Number of pages | 3 |
Journal | Neuromuscular Disorders |
Volume | 14 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2004 |
Keywords
- Chronic progressive external ophthalmoplegia
- Mitochondrial myopathy
- mtDNA
- Point mutation
- tRNA
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology