Abstract
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.
MeSH terms
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Adolescent
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Adult
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Biopsy
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Cardiomyopathies / diagnosis
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Cardiomyopathies / genetics
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Cardiomyopathies / physiopathology
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Cross-Sectional Studies
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Dystrophin / genetics*
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Female
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Genetic Predisposition to Disease / genetics*
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Heterozygote*
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Humans
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Middle Aged
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Muscle Weakness / diagnosis
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Muscle Weakness / genetics
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscular Dystrophy, Duchenne / genetics*
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Muscular Dystrophy, Duchenne / metabolism
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Muscular Dystrophy, Duchenne / physiopathology
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Myocardium / metabolism
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Myocardium / pathology
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Prospective Studies