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.

Cite this paper

@article{Heath1985EvaluationOC, title={Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase.}, author={Roslyn Heath and Nicholas Carter and Steve Jeffery and Robert J Edwards and Doctor Clark Watts and Ronald L. Watts}, journal={American journal of medical genetics}, year={1985}, volume={21 2}, pages={291-6} }