A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

Détails

ID Serval
serval:BIB_116C0C24B6C3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families
Périodique
Journal of Medical Genetics
Auteur(s)
Dincer  P., Akcoren  Z., Demir  E., Richard  I., Sancak  O., Kale  G., Ozme  S., Karaduman  A., Tan  E., Urtizberea  J. A., Beckmann  J. S., Topaloglu  H.
ISSN
1468-6244 (Electronic)
Statut éditorial
Publié
Date de publication
05/2000
Volume
37
Numéro
5
Pages
361-7
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 11/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha sarcoglycan deficiency 2, beta sarcoglycan deficiency 7, gamma sarcoglycan deficiency 5, delta sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans. gamma sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary gamma sarcoglycan deficiency showed normal or only mildly abnormal delta sarcoglycan staining.
Mots-clé
Adolescent Adult Blotting, Western Child Child, Preschool Cytoskeletal Proteins/genetics/metabolism Female Fluorescent Antibody Technique *Genes, Recessive Humans *Linkage (Genetics) Male Membrane Glycoproteins/genetics/metabolism Muscular Dystrophies/classification/*genetics/pathology
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 13:39
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