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Screening of calpain‐3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
BACKGROUND: The diagnosis of calpainopathy is obtained by identifying calpain‐3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain‐3 protein quantity is normal because loss‐of‐function mutations cause its enzymatic...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Group
2007
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597906/ https://ncbi.nlm.nih.gov/pubmed/16971480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044859 |
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