Article
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Human biology - 1 Oct 2004
Cobo Ana María, Sáenz Ametz, Poza Juan José, Urtasun Miguel, Indakoetxea Begoña, Urtizberea Jon Andoni, López de Munain Adolfo, Calafell Francesc
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene. Of those, 2362AG --> TCATCT is particularly prevalent in Basque patients, and this mutation was hypothesized to have arisen in the Basque Country. To explore the natural history of this mutation, we genotyped 65 Basque and non-Basque patients with LGMD2A who carry the 2362AG --> TCATCT mutation...
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