A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

Détails

ID Serval
serval:BIB_D3857C6279A3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
Périodique
Neuromuscular Disorders
Auteur⸱e⸱s
Richard  I., Bourg  N., Marchand  S., Alibert  O., Eymard  B., van der Kooi  A. J., Jackson  C. E., Garcia  C., Burgunder  J. M., Legum  C., de Visser  M., Fardeau  M., Beckmann  J. S.
ISSN
0960-8966 (Print)
Statut éditorial
Publié
Date de publication
12/1999
Volume
9
Numéro
8
Pages
555-63
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process.
Mots-clé
Chromosome Mapping Contig Mapping Fluorescence Genetic Markers Humans Microsatellite Repeats Muscular Dystrophies/*diagnosis/*genetics *Reagent Kits, Diagnostic
Pubmed
Web of science
Création de la notice
25/01/2008 17:19
Dernière modification de la notice
20/08/2019 16:53
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