Publications by authors named "S A Kurbatov"
Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.
Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023.
Article Synopsis
- Charcot-Marie-Tooth disease type 4C (CMT4C) is a common type of recessive neuropathy caused by genetic variants in a specific gene.
- A study of 700 unrelated Russian patients found 10 cases of CMT4C, indicating a prevalence of 2.5% among those with demyelinating neuropathy.
- Researchers identified 4 new and 9 previously known genetic variants related to CMT4C, with one variant (p.Arg954*) appearing in about 30% of the patients, showing no major variant accumulation overall.
Article Synopsis
- Sarcoglycanopathies are a group of limb-girdle muscular dystrophies (LGMD R3-R6) caused by mutations in the SGCA, SGCB, SGCG, and SGCD genes, with low global prevalence.
- A study analyzed clinical and genetic data from 49 Russian patients, revealing that 71.4% had SGCA gene variants, while SGCB and SGCG had variants in 12.2% each, and SGCD in 4.1%.
- The most common mutations were c.229C>T and c.271G>A in SGCA, and the overall incidence of sarcoglycanopathies in Russia was estimated at 1 in 4,115
Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes and , demonstrating wide genetic heterogeneity of this mitochondrial disease.
View Article and Find Full Text PDFThe first documented case of mitochondrial neurogastrointestinal encephalomyopathy was described in 1962 by R. Luft. The variety and am-biguity of the clinical manifestations of the disease complicate its early diagnosis and treatment.
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