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- W2975842912 abstract "We present data of Russian Children Neuromuscular Center that was created to examine and diagnose patients with neuromuscular diseases. During last 5 years we collected a blood and genetic data of patients with Duchenne and Becker muscular dystrophies. To the date we gathered information about 657 patients (582 DMD and 75 BMD patients). SMA Registry now includes data about 727 patients: SMA type 1 - 164 patients, SMA type 2 - 349 patients, SMA type 3 - 200 patients, SMA type 4 - 1 patient, distal SMA - 5 patients, other SMA - 8 patients. New wave of gathering information from our neuromuscular patients was in 2018, when we started collect different data from patients with congenital muscular dystrophy type 1A (LAMA2 gene), collagen VI disorders (Ullrich and Bethlem CMD) - 60 patients, patients with FKRP related disorders - 15, patients with LGMDR1 (CAPN3 gene) - 17, patients with sarcoglycanopathies - 9, patients with LGMDR2 and Myoshi dysferlinopathies - 7, patients with Landousy muscular dystrophy - 8, and Emery-Dreifuss muscular dystrophy - 9, patients with RYR1 mutations - 15, and other congenital myopathies. Collecting blood and information provides additional information about the natural history of the disorders, genotype and phenotype correlations that possibly in future will help scientists to understand better pathogenesis and other factors that could influence on the course of the disease. We hope that this knowledge will allow us to determine the incidence and prevalence of diseases in specific populations and regions of Russia. This Registries will help to identify individual needs of patients and improve the quality of life, stimulate the development of basic science and molecular genetic technologies, which in the near future will be able to cure patients with neuromuscular disorders. Presence of a well-structured register allowed us to quickly recruit patients to current clinical trials, that was very actual for our DMD and SMA patients." @default.
- W2975842912 created "2019-10-03" @default.
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- W2975842912 date "2019-10-01" @default.
- W2975842912 modified "2023-09-25" @default.
- W2975842912 title "P.393New advances in the neuromuscular diseases registry in Russia" @default.
- W2975842912 doi "https://doi.org/10.1016/j.nmd.2019.06.555" @default.
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