In a study by Chausova et al. (2025), researchers analyzed genetic data from 90 Russian patients with LAMA2-associated muscular dystrophy. They found that the most common genetic changes were nonsense mutations, occurring in 40% of cases. Frameshift variants were also significant, comprising 29.3% of the cases, followed by splicing variants at 21.4%. Gross deletions and missense variants were less common, at 5.3% and 4% respectively. Notably, missense variants were exclusively associated with a milder form of the disease.
The study identified two prevalent pathogenic variants: c.7536del, found in 15% of cases and linked to Slavic populations, and c.8245-2A>G, primarily found in Kazan Tatars. The research suggests a founder effect for the c.7536del variant. Chausova et al. estimated the prevalence of LAMA2-associated muscular dystrophy in Russia to be around 1 in 117,700 individuals, providing a clearer picture of the genetic landscape of this condition in the Russian Federation.
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