Article Text
Short report
Spanish family with myalgia and cramps syndrome
Abstract
A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal. Dystrophin analysis by western blot revealed a dystrophin of reduced quantity and molecular weight. DNA analysis showed a deletion of the dystrophin gene involving exons 45–52. The natural history of this disorder and the large intrafamilial clinical variability are discussed.
- BMD, Becker muscular dystrophy
- myalgia
- cramps
- dystrophin
- dystrophinopathy
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Footnotes
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Competing interests: none declared