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
Author(s)
Fardeau  M., Hillaire  D., Mignard  C., Feingold  N., Feingold  J., Mignard  D., de Ubeda  B., Collin  H., Tome  F. M., Richard  I., Beckmann  J.
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
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 16:17
Last modification date
20/08/2019 14:42
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