Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041879 | Neuromuscular Disorders | 2013 | 4 Pages |
Abstract
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 dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site.
Keywords
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
N. Witting, M. Duno, J. Vissing,