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

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

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.
OriginalsprogEngelsk
TidsskriftNeuromuscular Disorders
Vol/bind23
Udgave nummer1
Sider (fra-til)25-8
Antal sider4
ISSN0960-8966
DOI
StatusUdgivet - 2013

ID: 48603923