Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were performed for 21 LGMD2 pedigrees from various origins. In addition to the 16 mutations described previously, we report 19 novel mutations. These data indicate that muscular dystrophy caused by mutations in CANP3 are found in patients from all countries examined so far and further support the wide heterogeneity of molecular defects in this rare disease.
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
Richard, I.; Brenguier, L.; Dincer, P.; Roudaut, C.; Bady, B.; Burgunder, J. M.; Chemaly, R.; Garcia, C. A.; Halaby, G.; Jackson, C. E.; Kurnit, D. M.; Lefranc, G.; Legum, C.; Loiselet, J.; Merlini, L.; NivelonChevallier, A.; OllagnonRoman, E.; Restagno, G.; Topaloglu, H.; Beckmann, J. S.
American Journal of Human Genetics
1997-05 / vol 60 / pages 1128-1138
gene; beta-sarcoglycan; chromosome-15; deficiency; families; glycoprotein; linkage analysis; maps; mutations; region