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.
de Visser
M
M
Department of Neurology, University of Amsterdam, The Netherlands.
Bakker
E
E
Defesche
J C
JC
Bolhuis
P A
PA
van Ommen
G J
GJ
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