A New Method for the Analysis of Age Trends in CPK Levels with Application to Duchenne Muscular Dystrophy

Publisher Website
Google Scholar
Abstract
Measurement of serum creatine phosphokinase (CPK) is the most commonly applied test for carrier detection in Duchenne muscular dystrophy. About 2/3 of all carriers have markedly elevated CPK levels. Age correction of CPK measurements would be straightforward if carriers of all ages could be unambiguously identified. Since such identification is impossible, an indirect statistical method based on Haldane''s theory of the balance between selection and mutation for X-linked lethals was derived. This method was applied to a large body of data gathered on female relatives of Duchenne muscular dystrophy patients and on controls, and results were compared to earlier partial findings.