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Details of CAPN3 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]: An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. Note=The disease is caused by mutations affecting the gene represented in this entry. |
253600 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Capn3 | | | Sp-Calpain |
