title: Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
abstract: Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One autosomal dominant family, LGMD1A, has been linked to chromosome 5q, whereas in other autosomal dominant families linkage to this chromosome has been excluded. We studied 58 members of three families with a newly recognized autosomal dominantly inherited LGMD with cardiac involvement. A search with highly polymorphic microsatellite markers was carried out. The gene for this newly recognized dominant form of LGMD was located on chromosome 1q11-21, with a combined maximum two-point LOD score >12 at theta = 0.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: M
authors.initials: M
authors.lastname: van Meegen
authors.forename: T M
authors.initials: TM
authors.lastname: Ledderhof
authors.forename: E M
authors.initials: EM
authors.lastname: McNally
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D000293:Adolescent; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000235:genetics*
chemical_list: D005819:Genetic Markers