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Literature summary for 3.4.22.54 extracted from

  • Urtasun, M.; Saenz, A.; Roudaut, C.; et al.
    Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain) (1998), Brain, 121, 1735-1747.
No PubMed abstract available

Protein Variants

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/ Products (Substrates)

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 ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P20807
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Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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Homo sapiens
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Substrates and Products (Substrate)

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 ?
-
?