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- W2045307531 abstract "Abstract In 371 healthy relatives of patients with progressive muscular dystrophy of the Duchenne type clinical, electrocardiographic, electromyographic and biochemical examinations were performed. In no case did clinical examination reveal clear evidence of myopathy. The changes in ECG (6–21% abnormal) and EMG (up to 38% abnormal) and a fall in serum citric acid level, similar to the changes observed in patients with the disease, seem to be associated with the carrier state, but having been found in only a small proportion of subjects examined, they seem to us to be of little practical value. An increase of serum aldolase activity in all of the groups examined, including male members, was found, so that this enzyme does not seem to be useful in detecting carriers. The increase in the activity of creatine phosphokinase (CPK) in the serum appears to be the most valuable of all known methods for detecting the carrier state. The usefulness of CPK determination after physical exercise is discussed. The extent to which it is possible at the present stage to draw practical conclusions from these investigations concerning the detection of carriers is discussed." @default.
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- W2045307531 date "1968-11-01" @default.
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- W2045307531 title "Studies of healthy relatives of patients with Duchenne muscular dystrophy" @default.
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- W2045307531 doi "https://doi.org/10.1016/0022-510x(68)90053-1" @default.
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