Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)

Détails

ID Serval
serval:BIB_0680B09FD896
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)
Périodique
Brain
Auteur(s)
Urtasun  M., Saenz  A., Roudaut  C., Poza  J. J., Urtizberea  J. A., Cobo  A. M., Richard  I., Garcia Bragado  F., Leturcq  F., Kaplan  J. C., Marti Masso  J. F., Beckmann  J. S., Lopez de Munain  A.
ISSN
0006-8950 (Print)
Statut éditorial
Publié
Date de publication
09/1998
Volume
121 ( Pt 9)
Pages
1735-47
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep
Résumé
The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an accumulation of cases may be found. We carried out an epidemiological study in Guipuzcoa, a small mountainous Basque province in northern Spain, and found the highest prevalence rate of LGMD described so far: 69 per million. Genetic studies demonstrated that 38 cases corresponded to the LGMD2A type, due to calpain-3 gene mutations. Only one patient with alpha-sarcoglycanopathy was found, and in 12 patients the genetic defect was not identified. Moreover, the particular calpain-3 mutation predominant in Basque chromosomes (exon 22, 2362AG-->TCATCT), has only been rarely found in the rest of the world. This observation strongly suggests a founder effect in the indigenous population of Guipuzcoa. The clinical characteristics of the patients with calpain-3 gene mutations were quite homogeneous and different from the other groups (sarcoglycanopathy and unknown gene defect), allowing for a precise clinical diagnostic. The disease onset was between the ages of 8 and 15 years, in most cases in the pelvic girdle, and the patients became wheelchair-bound between 11 and 28 years after onset. No pseudohypertrophy of calves or contractures were observed. No clear correlations were found between the nature and site of the mutation and the resulting phenotype.
Mots-clé
Adult Age of Onset Aged Base Sequence Calpain/*genetics Chromosome Mapping *Chromosomes, Human, Pair 15 DNA Primers Exons Female Genotype Geography Humans Incidence Isoenzymes/*genetics Male Medical Records Middle Aged *Muscle Proteins Muscle, Skeletal/pathology Muscular Dystrophies/*epidemiology/*genetics/physiopathology Mutation Phenotype Point Mutation Polymerase Chain Reaction Polymorphism, Genetic Prevalence Retrospective Studies Spain/epidemiology Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 12:28
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