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PMID: 965952 Published · ppublish English Journal Article

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.

Journal de genetique humaine ·Vol. 24 ·No. 2 ·1976-06-00 ·Pages 153-68

Zatz M, Frota-Pessoa O, Levy JA, Peres CA

Abstract

Serum CPK was measured in 135 families with Duchenne muscular dystrophy (DMD) and 19 with the Becker type (BMD). Increased CPK was found in 62% of the carriers of DMD and 62.5% of the BMD. Two certain carries of DMD and one of their daughters showed clinical signs of myopathy. Three studied DMD pregnant carriers suggest that there is a decrease in CPK levels around the 4th-5th months of gestation. In genetic counselling of suspected carriers the CPK activity of their normal daughters should always be considered. Our data suggest strongly that CPK activity decreases in carriers with increasing age.

MeSH Terms
Age Factors Brazil Creatine Kinase/metabolism Female Genetic Linkage Heterozygote Humans Male Muscular Dystrophies/enzymology,genetics Pregnancy Sex Chromosomes
Chemicals
Creatine Kinase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Zatz M
Frota-Pessoa O
Levy J A
Peres C A
Article Info
Journal
Journal de genetique humaine
Abbr.
J Genet Hum
ISSN
0021-7743
Published
1976-06-00
Pages
153-68
Language
English
Region
Switzerland
NLM ID
2983308R
Subset
IM
External Links
PubMed source
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