The study finds no evidence supporting preferential X-chromosome inactivation in females at risk for Duchenne and Becker muscular dystrophies based on CK and PK levels.
No support for preferential X-inactivation in DMD carrier assessment; leaves open the basis of intrafamilial CK correlations for prospective validation.
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.
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Rabbi‐Bortolini et al. (1991) studied this question.
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