A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

Neurology. 2003 Aug 12;61(3):404-6. doi: 10.1212/01.wnl.0000073984.46546.4f.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Child
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Contractile Proteins / genetics*
  • DNA Mutational Analysis
  • Female
  • Filamins
  • Genes, Dominant
  • Genetic Linkage*
  • Genotype
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Microfilament Proteins / genetics*
  • Microsatellite Repeats
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Physical Chromosome Mapping
  • Promoter Regions, Genetic / genetics
  • Spain


  • Contractile Proteins
  • Filamins
  • Microfilament Proteins