title: A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies.
abstract: 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.
authors.affiliation: Généthon, CNRS URA 1922, Evry, France. richard@genethon.fr
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: N
authors.initials: N
authors.lastname: Bourg
authors.forename: S
authors.initials: S
authors.lastname: Marchand
authors.forename: O
authors.initials: O
authors.lastname: Alibert
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: A J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: C
authors.initials: C
authors.lastname: Garcia
authors.forename: J M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D002874:Chromosome Mapping; D020451:Contig Mapping; D005453:Fluorescence; D005819:Genetic Markers; D006801:Humans; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D011933:Reagent Kits, Diagnostic
chemical_list: D005819:Genetic Markers; D011933:Reagent Kits, Diagnostic