Serum Creatine Phosphokinase in 4 Generations of a Muscular Dystrophy Family

Abstract

The gene defect in 4 generations of a family with the Duchenne type of muscular dystrophy was manifest by disease and by serum creatine phosphokinase. The defect was made evident by disease as well as enzymic activity in the 2 living affected males and by pedigree as well as enzymic activity in 3 carriers. It was made apparent by pedigree alone in 1 carrier and by enzymic activity alone in 2 probable carriers and in 2 as yet unaffected males. The biochemical parameter thus had confirmatory, predictive, and prognostic values for this family.