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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

✍ Scribed by J. Andrew Keightley; Roberto Anitori; Miriam D. Burton; Franklin Quan; Neil R.M. Buist; Nancy G. Kennaway


Book ID
117853459
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
673 KB
Volume
67
Category
Article
ISSN
0002-9297

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Progressive exercise intolerance associa
✍ Claudio Bruno; Filippo M. Santorelli; Stefania Assereto; Emmanuel Tonoli; Alessa πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 129 KB

## 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