title: Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.
abstract: Erb's type limb-girdle muscular dystrophy (LGMD) was identified and clinically studied in detail in a small community living in the Reunion Island (RI). It was linked to chromosome 15q and related to mutations in the muscle specific calpain 3 gene. A series of cases were afterwards clinically and genetically identified in the French metropolitan community. The phenotype was identical to the RI type in the great majority of cases, although clinical differences were noticed in a few cases. Six different mutations were identified in the RI families, whereas a series of 39 mutations were detected in the French metropolitan families, all different from those present in the RI patients. Phenotype-genotype correlations were attempted in both communities.
authors.affiliation: INSERM U153, Hôpital de la Salpêtrière, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: C
authors.initials: C
authors.lastname: Mignard
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: I
authors.initials: I
authors.lastname: Richard
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; D002884:Chromosomes, Human, Pair 15; D005121:Extremities; D005602:France; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007195:Indian Ocean Islands; D018482:Muscle, Skeletal / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D014504:Urban Health
chemical_list: D002154:Calpain