𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

✍ Scribed by Michelangelo Mancuso; Massimiliano Filosto; J.Clarke Stevens; Marc Patterson; Sara Shanske; Sindu Krishna; Salvatore DiMauro


Book ID
119465851
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
111 KB
Volume
209
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


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