دورية أكاديمية
Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature
| العنوان: | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
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| المؤلفون: | D. A. Grishina, N. A. Suponeva, V. V. Shvedkov, A. V. Belopasova |
| المصدر: | Нервно-мышечные болезни, Vol 5, Iss 1, Pp 25-34 (2015) |
| بيانات النشر: | ABV-press, 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | прогрессирующая конечностно-поясная миодистрофия, кальпаинопатия, кальпаин-3, наследственная миопатия, креатининфосфокиназа, электромиография, магнитно-резонансная томография мышц, генетический анализ, биопсия мышц, дифференциальный диагноз, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological role of calpain 3 protein, possible pathogenetic mechanisms for the development of myodystrophy, diagnostic criteria, and therapeutic approaches. Clinical neurologists» awareness of LGMD2A will be able to reduce the time to a correct diagnosis, to take measures to slow down the rate of disease progression, to make medical and genetic counselling, a follow-up, and monitoring, as well as to use measures for the physical and social adaptation of a patient. Key words: progressive limb-girdle muscular dystrophy, calpainopathy, calpain 3, inherited myopathy, creatinine phosphokinase, electromyography, muscle magnetic resonance imaging, genetic analysis, muscle biopsy, differential diagnosis. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | Russian |
| تدمد: | 2222-8721 2413-0443 |
| Relation: | https://nmb.abvpress.ru/jour/article/view/107; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443 |
| DOI: | 10.17650/2222-8721-2015-1-25-34 |
| URL الوصول: | https://doaj.org/article/ab8434346a3d46638698e841eac50905 |
| رقم الأكسشن: | edsdoj.b8434346a3d46638698e841eac50905 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22228721 24130443 |
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| DOI: | 10.17650/2222-8721-2015-1-25-34 |