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Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

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Authors:
  • Witting, N ;
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    Neurology, Department of, The Neuroscience Center, Rigshospitalet, The Capital Region of Denmark
  • Duno, M ;
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    Clincial Genetics, Department of, Centre of Diagnostic Investigations, Rigshospitalet, The Capital Region of Denmark
  • Vissing, J
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    Neurology, Department of, The Neuroscience Center, Rigshospitalet, The Capital Region of Denmark
DOI:
10.1016/j.nmd.2012.07.004
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.
Type:
Journal article
Language:
English
Published in:
Neuromuscular Disorders, 2013, Vol 23, Issue 1, p. 25-8
Keywords:
Case Reports; Journal Article
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2013
Scientific Level:
Scientific
ID:
234851338

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