title: An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: F
authors.initials: F
authors.lastname: Benedicenti
authors.forename: C
authors.initials: C
authors.lastname: Fritegotto
authors.forename: A C
authors.initials: AC
authors.lastname: Nascimbeni
authors.forename: E
authors.initials: E
authors.lastname: Peterle
authors.forename: F
authors.initials: F
authors.lastname: Stanzial
authors.forename: A
authors.initials: A
authors.lastname: Cristofoletti
authors.forename: C
authors.initials: C
authors.lastname: Castellan
authors.forename: C
authors.initials: C
authors.lastname: Angelini
mesh_terms: D001483:Base Sequence; D002154:Calpain / Q000235:genetics*; D003241:Consanguinity; D006801:Humans; D007438:Introns / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain