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Further Studies Concerning the Detection of Carriership in the Duchenne Type of Dystrophy

机译:Further Studies Concerning the Detection of Carriership in the Duchenne Type of Dystrophy

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Serum creatine kinase (CPK) determinations, electromyography and electrocardiography were performed on a material of 192 female relatives of boys with Duchenne’s dystrophy. CPK, which gives the highest detectability of carriership, scored only up to 66 in the present material, even among known carriers (50 in possible). Electromyography and electrocardiography, when applied separately, played a minor part in detection of the carrier state. CPK determination in the daughters improved carriership detectability substantially (by 27) in the mothers; the CPK activity may be raised in the daughter even when it is normal in the mother. In establishing, and especially in excluding, carriership combined methods should be employed and all female relatives of a suspected mother should be tested, especially her daughter

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