title: Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
abstract: 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.
authors.affiliation: URA 1922 CNRS, Généthon, Evry, France.
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: L
authors.initials: L
authors.lastname: Brenguier
authors.forename: P
authors.initials: P
authors.lastname: Dinçer
authors.forename: C
authors.initials: C
authors.lastname: Roudaut
authors.forename: B
authors.initials: B
authors.lastname: Bady
authors.forename: J M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: R
authors.initials: R
authors.lastname: Chemaly
authors.forename: C A
authors.initials: CA
authors.lastname: Garcia
authors.forename: G
authors.initials: G
authors.lastname: Halaby
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: D M
authors.initials: DM
authors.lastname: Kurnit
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: J
authors.initials: J
authors.lastname: Loiselet
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: A
authors.initials: A
authors.lastname: Nivelon-Chevallier
authors.forename: E
authors.initials: E
authors.lastname: Ollagnon-Roman
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002154:Calpain / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005060:Europe; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008877:Middle East; D009124:Muscle Proteins; D009136:Muscular Dystrophies / Q000145:classification / Q000209:etiology* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D014481:United States
chemical_list: D005819:Genetic Markers; D007527:Isoenzymes; D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain