title: Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
abstract: A series of patients affected by a muscular dystrophy, similar to the original description of a juvenile scapulo-humeral form by Erb in 1884 and fitting with the criteria used to define limb-girdle muscular dystrophies, was discovered in a small community living in the southern part of Reunion Island in the Indian Ocean. A detailed clinical analysis was conducted over 5 years on a cohort of 20 patients. This community presented a high degree of consanguinity as it was segregated from the majority of the island population for more than a century. In previous molecular genetic studies, the disease locus has been mapped to chromosome 15p. Mutations were recently identified in a gene located in this region encoding for muscle-specific calcium activated neutral protease (CANP3). Clinical, pathological, genetic and complete identification of the mutations are presented here, establishing, for the first time, precise clinico-genetic correlations in this form of autosomal recessive, juvenile, limb-girdle muscular dystrophy (LGMD).
authors.affiliation: INSERM U153, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: D
authors.initials: D
authors.lastname: Hillaire
authors.forename: C
authors.initials: C
authors.lastname: Mignard
authors.forename: N
authors.initials: N
authors.lastname: Feingold
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: D
authors.initials: D
authors.lastname: Mignard
authors.forename: B
authors.initials: B
authors.lastname: de Ubeda
authors.forename: H
authors.initials: H
authors.lastname: Collin
authors.forename: F M
authors.initials: FM
authors.lastname: Tome
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: J
authors.initials: J
authors.lastname: Beckmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D015331:Cohort Studies; D003241:Consanguinity; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D009132:Muscles / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D017508:Reunion / Q000453:epidemiology; D013848:Thigh / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed