An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy.

摘要: Serum creatine kinase activity has been utilized to evaluate the probability that female relatives of a patient with Duchenne muscular dystrophy are heterozygous. Each possible carrier was classified genetically on basis whether risk she is heterozygous known or unknown. Although only 65 per cent definite carriers could be identified by elevated activity, there close agreement between number and expected These observations explained age differences in heterozygotes, suggest detection studies should performed at an early age. Comparison mothers who isolated cases shows approximately fifty