Publications by authors named "S V Gorokhova"
Article Synopsis
- High-throughput sequencing has revealed "actionable genes" that are associated with diseases having specific treatments or care.
- Accurate genetic diagnosis is essential in starting interventions that can prevent or delay rare diseases, but increased analysis requests can delay results.
- A French study identified 63 actionable genes in myopathies, highlighting the potential for improved patient prognosis, yet many rare diseases still lack specific treatments, emphasizing the need for ongoing research.
Article Synopsis
- Rigid spine syndrome is a rare condition in children marked by progressive scoliosis, neck and spine stiffness, muscle weakness, and breathing issues, primarily linked to genetic variations in the SELENON gene.
- Recent research identified additional genetic variants in the HMGCS1 gene in five patients, suggesting it plays a role in this syndrome, despite it not being previously linked to any diseases.
- Functional studies of the HMGCS1 variants showed altered protein stability and activity, and experiments in zebrafish indicated that these mutations severely impact development, but can be rescued by introducing healthy HMGCS1 mRNA.
Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.
View Article and Find Full Text PDFExpert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Ann Clin Transl Neurol
September 2024
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.
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