Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Détails

ID Serval
serval:BIB_4E0A8DFDB3F5
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Périodique
American Journal of Human Genetics
Auteur(s)
Richard I., Brenguier L., Dinçer P., Roudaut C., Bady B., Burgunder J.M., Chemaly R., Garcia C.A., Halaby G., Jackson C.E., Kurnit D.M., Lefranc G., Legum C., Loiselet J., Merlini L., Nivelon-Chevallier A., Ollagnon-Roman E., Restagno G., Topaloglu H., Beckmann J.S.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
1997
Volume
60
Numéro
5
Pages
1128-1138
Langue
anglais
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were performed for 21 LGMD2 pedigrees from various origins. In addition to the 16 mutations described previously, we report 19 novel mutations. These data indicate that muscular dystrophy caused by mutations in CANP3 are found in patients from all countries examined so far and further support the wide heterogeneity of molecular defects in this rare disease.
Mots-clé
Adolescent, Adult, Age of Onset, Calpain/genetics, Child, Child, Preschool, Chromosomes, Human, Pair 15, Europe, Female, Genetic Heterogeneity, Genetic Markers, Haplotypes, Humans, Isoenzymes/genetics, Lod Score, Male, Middle East, Muscle Proteins, Muscular Dystrophies/classification, Muscular Dystrophies/etiology, Mutation, Pedigree, United States
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 14:03
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