Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

Hum Mol Genet. 1995 Sep;4(9):1629-32. doi: 10.1093/hmg/4.9.1629.

Abstract

An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.

Publication types

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

MeSH terms

  • Adolescent
  • Age of Onset
  • Arm
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Pedigree
  • Polymorphism, Genetic