Publications by authors named "Yana V Sofronova"
Background: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.
Case Presentation: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant.
Article Synopsis
- - The study focused on dysferlinopathy in an isolated Avar population in Dagestan, examining the prevalence of a specific pathological DYSF gene variant linked to muscular dystrophy, using genetic screenings of 746 individuals.
- - Findings revealed a high allele frequency of 14%, with a notable 3.8% of individuals homozygous for the variant, leading to two phenotypes: limb-girdle muscular dystrophy and Miyoshi muscular dystrophy.
- - The research concluded that inbreeding contributed to the population's significant burden of dysferlinopathy, indicated by a low number of heterozygotes and a specific fixation index value.