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dc.contributor.author | Starostina I. | |
dc.contributor.author | Solovyeva V. | |
dc.contributor.author | Yuryeva K. | |
dc.contributor.author | Shevchenko K. | |
dc.contributor.author | Fedotov V. | |
dc.contributor.author | Rizvanov A. | |
dc.contributor.author | Deev R. | |
dc.contributor.author | Isaev A. | |
dc.date.accessioned | 2018-09-18T20:30:48Z | |
dc.date.available | 2018-09-18T20:30:48Z | |
dc.date.issued | 2013 | |
dc.identifier.issn | 1815-445X | |
dc.identifier.uri | https://dspace.kpfu.ru/xmlui/handle/net/140648 | |
dc.description.abstract | Dysferlinopathies is a group of autosomal-recessive inherited neuromuscular diseases, which are characterized by defect in mRNA expression or in functionioning of dysferlin protein, appearing in about 1/200 000 births. Dysferlin is encoded by DYSF gene (Dystrophy-associated fer-1- like). It's disruption can cause various types of primary dysferlinopathies, which include Miyoshi myopathy (MM), Limb-girdle Muscular Dystrophy type 2B (LGMD2B) and distal myopathy with anterior tibial onset. Also, dysferlin deficiency can be associated with other diseases, such as caveolin- And calpainopathies. Here we discuss dysferlin protein structure and function, it's clinical phenotypes, known animal models and developing treatment strategies for dysferlinopathies. © Human stem cells institute, 2013. | |
dc.relation.ispartofseries | Cellular Transplantation and Tissue Engineering | |
dc.subject | Distal myopathy with anterior tibial onset | |
dc.subject | Dysferlin | |
dc.subject | Dysferlinopathy | |
dc.subject | Limb girdle muscular dystrophy | |
dc.subject | Miyoshi myopathy | |
dc.title | Modeling and gene therapy of dysferlinopathy | |
dc.type | Review | |
dc.relation.ispartofseries-issue | 3 | |
dc.relation.ispartofseries-volume | 8 | |
dc.collection | Публикации сотрудников КФУ | |
dc.relation.startpage | 61 | |
dc.source.id | SCOPUS1815445X-2013-8-3-SID84887112580 |