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

N Witting; M Duno; J Vissing

doi:10.1016/j.nmd.2012.07.004

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

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

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

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