Multiple Independent Molecular Etiology forLimb-Girdle Muscular Dystrophy Type2APatients fromVarious Geographical Origins

Summary Limb-girdle muscular dystrophies (LGMDs) areagroup ofneuromuscular diseases presenting great clinical heterogeneity. Mutations inCANP3,thegeneencoding muscle-specific calpain, wereusedtoidentify this gene asthegenetic site responsible forautosomal recessive LGMD type2A(LGMD2A;MIM 253600). Analyses ofthesegregation ofmarkers flanking theLGMD2A locus andasearch forCANP3mutations wereperformed for21LGMD2pedigrees fromvarious origins. Inaddition tothe16mutations described previously, wereport 19novel mutations. These data indicate that muscular dystrophy caused bymutations inCANP3are found inpatients fromallcountries examined sofar andfurther support thewideheterogeneity ofmolecular defects inthis raredisease.