Scarlato G, Valli G, Meola G, Carenini L
J Neurol. 1977 Nov 1;216(4):235-49. doi: 10.1007/BF00314048.
Seventy-nine women known as, or suspected to be, carriers of the Duchenne type of muscular dystrophy were examined. The 15 known carriers had an estimation of the CPK serum level and a manual quantitative EMG, which gave the high detection rate of 93%. The 64 suspected carriers had CPK determination and quantitative EMG, or CPK and muscle biopsy, and the value of each technic is discussed. The problem of giving a reassuring answer to women considered to be possible carriers on genetic criteria, but who are not really carriers, is solved if the results of all three tests are negative.
对79名已知为或疑似为杜氏肌营养不良症携带者的女性进行了检查。15名已知携带者检测了血清肌酸磷酸激酶(CPK)水平并进行了手动定量肌电图检查,检测率高达93%。64名疑似携带者进行了CPK测定和定量肌电图检查,或CPK测定及肌肉活检,并对每种技术的价值进行了讨论。如果三项检测结果均为阴性,那么对于那些根据遗传标准被认为可能是携带者但并非真正携带者的女性,就可以解决给予她们令人安心答复的问题。