Limb-girdle muscular dystrophy type 2A (calpainopathy)
The clinical presentation of progressive limb-girdle muscular dystrophy type 2A (LGMD2A) is due to loss of functionally active cal-pain-3, a skeletal muscle specific isoform of one of the calpain family proteins involved in the regulation of different tissue processes. The function of calpain-3 and...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/138 |
| Summary: | The clinical presentation of progressive limb-girdle muscular dystrophy type 2A (LGMD2A) is due to loss of functionally active cal-pain-3, a skeletal muscle specific isoform of one of the calpain family proteins involved in the regulation of different tissue processes. The function of calpain-3 and the pathophysiological mechanism of LGMD2A are still not fully understood. The article discusses the features of the pathogenesis, clinical presentation, and diagnosis of LGMD2A and the possible administration of calpain-3 trans-genes as a specific therapy for this disease. Two clinical cases of patients with this condition are given. |
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| ISSN: | 1027-4065 2500-2228 |