Location of facioscapulohumeral muscular dystrophy gene on chromosome 4

Lancet. 1990 Sep 15;336(8716):651-3. doi: 10.1016/0140-6736(90)92148-b.


The autosomal dominant disorder facioscapulohumeral muscular dystrophy (FSHD) is the last of the major progressive muscular dystrophies in which the gene had not been located. In linkage analysis on ten Dutch families with this disorder a lod score of 6.34 at a recombination fraction of 0.13 was obtained with the microsatellite marker Mfd 22 (D4S171). This maps the FSHD gene to chromosome 4. Only one family was uninformative for this marker. We found no evidence of genetic heterogeneity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 4*
  • Genetic Markers / blood
  • Genome, Human
  • Homozygote
  • Humans
  • Lod Score
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Netherlands / epidemiology
  • Polymerase Chain Reaction
  • Recombination, Genetic


  • Genetic Markers