title: A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
abstract: In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, the authors did not detect any defects in filamin C or its protein product.
authors.affiliation: Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Palenzuela
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: J
authors.initials: J
authors.lastname: Gàmez
authors.forename: M R
authors.initials: MR
authors.lastname: Vilà
authors.forename: T
authors.initials: T
authors.lastname: Kunimatsu
authors.forename: A
authors.initials: A
authors.lastname: Meseguer
authors.forename: C
authors.initials: C
authors.lastname: Cervera
authors.forename: I
authors.initials: I
authors.lastname: Fernandez Cadenas
authors.forename: P F M
authors.initials: PF
authors.lastname: van der Ven
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: M
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000368:Aged; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003285:Contractile Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D064448:Filamins; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D020161:Physical Chromosome Mapping; D011401:Promoter Regions, Genetic / Q000235:genetics; D013030:Spain
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins