Clinical and genetic characteristics of congenital muscular dystrophies (part 2)
| Autor: | P. A. Chausova, O. P. Ryzhkova, A. V. Polyakov |
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| Jazyk: | ruština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Нервно-мышечные болезни, Vol 10, Iss 2, Pp 12-21 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2222-8721 2413-0443 |
| DOI: | 10.17650/2222-8721-2020-10-2-12-21 |
| Popis: | Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd part of this review presents the classification, phenotypic forms, clinical features, pathogenesis and etiology of this type of congenital muscular dystrophies. In addition, the issues of molecular diagnosis of congenital muscular dystrophies are considered and information on modern developments in the treatment of this pathology is provided. |
| Databáze: | Directory of Open Access Journals |
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