Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature
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 pathogene...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2015-05-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/107 |
| _version_ | 1797759135486312448 |
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| author | D. A. Grishina N. A. Suponeva V. V. Shvedkov A. V. Belopasova |
| author_facet | D. A. Grishina N. A. Suponeva V. V. Shvedkov A. V. Belopasova |
| author_sort | D. A. Grishina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T18:40:06Z |
| format | Article |
| id | doaj.art-ab8434346a3d46638698e841eac50905 |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2024-03-12T18:40:06Z |
| publishDate | 2015-05-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-ab8434346a3d46638698e841eac509052023-08-02T07:53:06ZrusABV-pressНервно-мышечные болезни2222-87212413-04432015-05-0151253410.17650/2222-8721-2015-1-25-34100Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literatureD. A. Grishina0N. A. Suponeva1V. V. Shvedkov2A. V. Belopasova3ФГБУ «Научный центр неврологии» РАМНФГБУ «Научный центр неврологии» РАМНФГБУ «Научный центр неврологии» РАМНФГБУ «Научный центр неврологии» РАМНThe 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.https://nmb.abvpress.ru/jour/article/view/107прогрессирующая конечностно-поясная миодистрофиякальпаинопатиякальпаин-3наследственная миопатиякреатининфосфокиназаэлектромиографиямагнитно-резонансная томография мышцгенетический анализбиопсия мышцдифференциальный диагноз |
| spellingShingle | D. A. Grishina N. A. Suponeva V. V. Shvedkov A. V. Belopasova Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature Нервно-мышечные болезни прогрессирующая конечностно-поясная миодистрофия кальпаинопатия кальпаин-3 наследственная миопатия креатининфосфокиназа электромиография магнитно-резонансная томография мышц генетический анализ биопсия мышц дифференциальный диагноз |
| title | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
| title_full | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
| title_fullStr | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
| title_full_unstemmed | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
| title_short | Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature |
| title_sort | inherited progressive limb girdle muscular dystrophy type 2a calpainopathy a review of literature |
| topic | прогрессирующая конечностно-поясная миодистрофия кальпаинопатия кальпаин-3 наследственная миопатия креатининфосфокиназа электромиография магнитно-резонансная томография мышц генетический анализ биопсия мышц дифференциальный диагноз |
| url | https://nmb.abvpress.ru/jour/article/view/107 |
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