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Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3
Calpain 3 (CAPN3) is a muscle-specific, calcium-dependent proteinase that is mutated in Limb Girdle Muscle Dystrophy type 2A. Most pathogenic missense mutations in LGMD2A affect CAPN3's proteolytic activity; however, two mutations, D705G and R448H, retain activity but nevertheless cause muscula...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Oxford University Press
2011
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3153300/ https://ncbi.nlm.nih.gov/pubmed/21624972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr239 |
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