Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase

✍ Scribed by Heath, R. ;Carter, N. D. ;Jeffery, S. ;Edwards, R. J. ;Watts, D. C. ;Watts, R. L. ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 308 KB
• Volume: 21
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320210211

✦ Synopsis

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.