Key result
Five brothers with a dystrophin gene deletion presented with an unusual variant of Becker muscular dystrophy characterized by absent calf hypertrophy and numerous rimmed vacuoles on muscle biopsy.
Case Report (n=5)
Becker muscular dystrophy can present with unusual features such as absent calf hypertrophy and the presence of rimmed vacuoles on muscle biopsy.
May prompt dystrophin testing in atypical myopathies; extends Becker muscular dystrophy phenotypic spectrum but remains hypothesis-generating.
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.
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Bakker et al. (1990) conducted a case report in Becker muscular dystrophy (n=5). Five brothers with a dystrophin gene deletion presented with an unusual variant of Becker muscular dystrophy characterized by absent calf hypertrophy and numerous rimmed vacuoles on muscle biopsy.
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