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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

โœ Scribed by Balreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirao, I.; Lima, J. L.; Azevedo, J. E.; Miranda, M. C. S.


Book ID
118736624
Publisher
Oxford University Press
Year
2008
Tongue
English
Weight
176 KB
Volume
17
Category
Article
ISSN
0964-6906

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## Abstract We report a novel nonsense mitochondrial cytochrome __b__ mutation (G15170A) in a 40โ€yearโ€old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome __c__ oxidaseโ€“positive raggedโ€red fibers, and reduced activities of respiratory chain co