The muscular dystrophy causes in women with DMD-diagnosis

The results of a study of 38 female with a clinical diagnosis of «Duchenne/Becker muscular dystrophy». All probands searched for deletions / duplications DMD gene, number of sex chromosomes and X inactivation, mutations in autosomal recessive LGMD-genes: CAPN3, FKRP, SGCA, SGCB, SGCG, SGCD. The cause of muscular dystrophy was established in 45% of the examined probands. It is shown that it is impossible to confirm the diagnosis of muscular dystrophy in women on the basis of detection of unbalanced X-chromosome inactivation. The medical technology «Single tube detection system for frequency sarcoglicans mutations» was introduced into the practical activity of the Research Centre for Medical Genetics.

прогрессирующая мышечная дистрофия, DMD, CAPN3, FKRP, SGCA, SGCB, SGCG, SGCD, лайонизация, медицинская технология, Duchenne/Becker muscular dystrophy, X inactivation, LGMD, CAPN3, FKRP, SGCA, SGCB, SGCG, SGCD

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