Why the study?
Does dystrophin analysis correlate with clinical phenotype in carriers of Duchenne and Becker muscular dystrophy?
Does dystrophin analysis correlate with clinical phenotype in carriers of Duchenne and Becker muscular dystrophy?
Dystrophin analysis may be useful for identifying suspected DMD/BMD carriers when DNA analysis is inconclusive, despite the lack of direct association with clinical phenotype.
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Dystrophin analysis should not guide prognosis in carriers; leaves open its diagnostic utility when genetic testing is inconclusive.
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.
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Hoogerwaard et al. (2005) studied this question.
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