An unusual variant of Becker muscular dystrophy.
We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder.
Department of Neurology, University of Amsterdam, The Netherlands.
M
M
de Visser
E
E
Bakker
J C
JC
Defesche
P A
PA
Bolhuis
G J
GJ
van Ommen
D000328:Adult; D016189:Dystrophin; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree
D016189:Dystrophin; D009124:Muscle Proteins