Table I.
CAPN3 protein and genes in different diseases.
| A, MD
| |||
|---|---|---|---|
| Disease | Protein expressiona | Gene mutationa | (Refs.) |
| Limb-girdle MD type 2A | Normal or low expression | Mutation | (59-69) |
| Limb-girdle MD type 2B | Low expression | Mutation | (86,87) |
| Limb-girdle MD type 2J | Low expression | - | (89,90) |
| Tibial MD | Low expression | - | (89,90) |
| Duchenne MD | Low expression | - | (91) |
| Facioscapulohumeral MD | Overexpression | Mutation | (92-94) |
| Ullrich congenital MD | Low expression | - | (95) |
|
| |||
| B, Other diseases
| |||
| Disease | Protein expression | Gene mutation | (Refs.) |
|
| |||
| Idiopathic eosinophilic myositis | - | Mutation | (96) |
| Inclusion body myositis | Low expression | - | (97,98) |
| Rhabdomyolysis syndrome | Low expression | - | (99,100) |
| Melanoma | Overexpression | - | (101-106) |
| Epilepsy | - | Mutation | (107,108) |
| Alzheimer's disease | Uncertain | - | (111) |
| Diabetes | Uncertain | - | (112,113) |
| Cardiovascular diseases | - | Mutation | (114,115) |
| Vitiligo | Overexpression | - | (116) |
| Age-related cataract | Overexpression | - | (117) |
a
Not all diseases have clear protein expression changes and gene mutations. MD, muscular dystrophy.