Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
Details
Serval ID
serval:BIB_82C2B31D8F18
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
Journal
Brain
ISSN
0006-8950 (Print)
Publication state
Published
Issued date
02/1996
Volume
119 ( Pt 1)
Pages
295-308
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Feb
Research Support, Non-U.S. Gov't --- Old month value: Feb
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).
Keywords
Adolescent
Adult
Chromosome Mapping
Chromosomes, Human, Pair 15
Cohort Studies
Consanguinity
Disease Progression
Female
Genotype
Humans
Male
Middle Aged
Molecular Biology
Muscles/pathology/physiopathology/radiography
Muscular Dystrophies/epidemiology/*genetics/*pathology/physiopathology
Mutation
Pedigree
Phenotype
Prevalence
Reunion/epidemiology
Thigh/radiography
Tomography, X-Ray Computed
Pubmed
Web of science
Create date
25/01/2008 17:17
Last modification date
20/08/2019 15:42