A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
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.
Palenzuela
L
L
Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Andreu
A L
AL
Gàmez
J
J
Vilà
M R
MR
Kunimatsu
T
T
Meseguer
A
A
Cervera
C
C
Fernandez Cadenas
I
I
van der Ven
P F M
PF
Nygaard
T G
TG
Bonilla
E
E
Hirano
M
M
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
D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins