title: Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase.
abstract: Carbonic anhydrase III (CAIII) and creatine kinase (CK) were measured in plasma samples from a series of females at-risk as carriers of Duchenne muscular dystrophy and compared with control groups. Both plasma CAIII and CK levels were raised in a proportion of carriers. Although measurement of CAIII and CK was no more successful in identifying carriers than CK alone, CAIII could fulfill a useful confirmatory role, particularly for cases with a marginally elevated CK or where the sample is poorly preserved. The difference between the CK and CAIII results could indicate biochemical heterogeneity in the expression of Duchenne muscular dystrophy.
mesh_terms: D002256:Carbonic Anhydrases / Q000097:blood*; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics* / Q000517:prevention & control; D012306:Risk
chemical_list: D003402:Creatine Kinase; D002256:Carbonic Anhydrases