X-linked myotubular myopathy: a linkage study

Clin Genet. 1990 May;37(5):335-40. doi: 10.1111/j.1399-0004.1990.tb03515.x.

Abstract

Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X-chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do exist.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Finland
  • Genes, Recessive*
  • Genetic Linkage / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Muscle Hypotonia / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Sweden
  • X Chromosome / ultrastructure*