Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

Nat Genet. 2002 Oct;32(2):235-6. doi: 10.1038/ng999. Epub 2002 Sep 23.


Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 4*
  • Female
  • Humans
  • Male
  • Muscular Dystrophy, Facioscapulohumeral / genetics*
  • Pedigree
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Telomere