A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
β Scribed by Eleonora Lamantea; Franco Carrara; Caterina Mariotti; Lucia Morandi; Valeria Tiranti; Massimo Zeviani
- Book ID
- 117669457
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 336 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0960-8966
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## Abstract We report a novel nonsense mitochondrial cytochrome __b__ mutation (G15170A) in a 40βyearβold woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome __c__ oxidaseβpositive raggedβred fibers, and reduced activities of respiratory chain co
## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor