Spanish family with myalgia and cramps syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 15654055.
- Also identified by PMC identifier 1739523.
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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.
Medical subject headings
- Dystrophin
- Muscle Cramp
- Muscular Diseases
- Pain