title: Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies.
abstract: In order to verify the possibility of nonrandom X-inactivation in females heterozygous for Duchenne (DMD) and Becker (BMD) muscular dystrophies, intrafamilial correlations and the heritabilities for serum creatine kinase (CK) and pyruvate kinase (PK) were estimated in a large sample of females belonging to families with affected patients. The results of the present investigation suggest that the apparent intrafamilial correlations for serum CK reported in previous studies in DMD families are not related with the presence of the DMD/BMD gene. Our data do not seem to support the hypothesis of a gene leading to a preferential inactivation of the X-chromosome in females at risk for the dystrophin gene.
authors.affiliation: Departamento de Genética, Universidade Federal do Espirito Santo, Vitória.
authors.forename: E
authors.initials: E
authors.lastname: Rabbi-Bortolini
authors.forename: G M
authors.initials: GM
authors.lastname: Dal Colletto
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: D
authors.initials: D
authors.lastname: Rapaport
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000097:blood / Q000235:genetics*; D011336:Probability; D011770:Pyruvate Kinase / Q000097:blood / Q000235:genetics*; D012307:Risk Factors
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase