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A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

✍ 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 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome __c__ oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain co

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## 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