Abstract
We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria associated with complex III deficiency in muscle. The point mutation results in the replacement of a glycine at amino acid position 190 with a stop codon. This change predicts premature termination of translation, leading to a truncated protein missing 244 amino acids at the C-terminus of cytochrome b. The mutation fulfills all the accepted criteria for pathogenicity, suggesting that this is the primary cause of the myopathy in the patient.
Original language | English |
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Pages (from-to) | 127-130 |
Number of pages | 4 |
Journal | Annals of Neurology |
Volume | 45 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1999 |
ASJC Scopus subject areas
- Neuroscience(all)