Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q

Am J Hum Genet. 1992 Jun;50(6):1211-7.

Abstract

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.

Publication types

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

MeSH terms

  • Cell Line, Transformed
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Leukocytes / physiology
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Pedigree
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid

Substances

  • Genetic Markers
  • DNA