Article
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.
Neuromuscular disorders : NMD - 1 Jan 2013
Witting N, Duno M, Vissing J
Abstract excerpt
Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the...
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