Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities
Détails
ID Serval
serval:BIB_6D860D705479
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities
Périodique
Neuromuscular Disorders
ISSN
0960-8966 (Print)
Statut éditorial
Publié
Date de publication
12/1996
Volume
6
Numéro
6
Pages
447-53
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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.
Mots-clé
Adolescent
Adult
Age of Onset
Calpain/genetics
Child
*Chromosomes, Human, Pair 15
Extremities
France
Genotype
Humans
Indian Ocean Islands
*Linkage (Genetics)
Muscle, Skeletal/*physiopathology
Muscular Dystrophies/classification/*genetics
Mutation
Phenotype
Urban Health
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 14:27