Protein Variants | Comment | Organism |
---|---|---|
additional information | limb-girdle muscular dystrophy: epidemiological study in Guipuzcoa, a small mountainous Basque province in northern Spain, finds the highest prevalence rate of LGMD described so far, 69 per million. Genetic studies demonstrates that 38 cases correspond to the LGMD2A type, due to calpain-3 gene mutations. The particular calpain-3 mutation predominant in Basque chromosomes, exon 22, 2362AGtoTCATCT, has only been rarely found in the rest of the world | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | limb-girdle muscular dystrophy: epidemiological study in Guipuzcoa, a small mountainous Basque province in northern Spain, finds the highest prevalence rate of LGMD described so far, 69 per million. Genetic studies demonstrate that 38 cases corresponde to the LGMD2A type, due to calpain-3 gene mutations. The particular calpain-3 mutation predominant in Basque chromosomes, exon 22, 2362AGtoTCATCT, has only been rarely found in the rest of the world. The clinical characteristics of the patients with calpain-3 gene mutations. The disease onset is between the ages of 8 and 15 years, in most cases in the pelvic girdle, and the patients become wheelchair-bound between 11 and 28 years after onset | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P20807 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skeletal muscle | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | limb-girdle muscular dystrophy: epidemiological study in Guipuzcoa, a small mountainous Basque province in northern Spain, finds the highest prevalence rate of LGMD described so far, 69 per million. Genetic studies demonstrate that 38 cases corresponde to the LGMD2A type, due to calpain-3 gene mutations. The particular calpain-3 mutation predominant in Basque chromosomes, exon 22, 2362AGtoTCATCT, has only been rarely found in the rest of the world. The clinical characteristics of the patients with calpain-3 gene mutations. The disease onset is between the ages of 8 and 15 years, in most cases in the pelvic girdle, and the patients become wheelchair-bound between 11 and 28 years after onset | Homo sapiens | ? | - |
? |