Serum Creatine Phosphokinase in 4 Generations of a Muscular Dystrophy Family
- 1 April 1966
- journal article
- research article
- Published by Oxford University Press (OUP) in American Journal of Clinical Pathology
- Vol. 45 (4) , 377-380
- https://doi.org/10.1093/ajcp/45.4.377
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.This publication has 3 references indexed in Scilit:
- Serum Creatine Phosphokinase Activity in Altered Thyroid StatesJournal of Clinical Endocrinology & Metabolism, 1965
- Serum Creatine Phosphokinase (CPK) Activity in Disorders of Heart and Skeletal MuscleAnnals of Internal Medicine, 1964
- An investigation of the carrier state in the Duchenne type muscular dystrophy*Annals of Human Genetics, 1961