A Spectrum of Pathogenic Variants in the Gene in the Russian Federation.

-associated muscular dystrophy is a rare genetic disorder caused by pathogenic or likely pathogenic variants in the gene. The aim of this study is to characterize the spectrum of pathogenic/likely pathogenic variants in the gene among Russian patients, identify frequent pathogenic variants specific to this population, and estimate the prevalence of this disorder in Russia. Data were collected and analyzed from patients with confirmed diagnoses of -associated muscular dystrophy using various molecular genetic methods in research centers from 2008 to 2024.