Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus

Neurogenetics. 2003 Aug;4(4):173-7. doi: 10.1007/s10048-003-0154-z. Epub 2003 Jun 27.

Abstract

Welander distal myopathy (WDM) is a late adult-onset autosomal dominant disorder, characterized by a slow progression and distal limb weakness of the extremity muscles. The WDM locus has been mapped to chromosome 2p13. Within this region a common shared haplotype co-segregates in all affected patients, indicating a founder effect. By undertaking an extended linkage analysis we have significantly reduced the WDM locus to a critical interval of approximately 1.2 Mb flanked by markers D2S358 and PAC3-H52. The dysferlin gene, a strong candidate gene responsible for two other distal myopathies in the same region, is located centromeric to PAC3-H52 and can thereby formally be excluded as cause for WDM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 2*
  • Dysferlin
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins*
  • Muscle Proteins / analysis
  • Muscle Proteins / genetics*
  • Muscular Diseases / genetics*
  • Pedigree
  • Telomere / genetics*

Substances

  • DYSF protein, human
  • Dysferlin
  • Genetic Markers
  • Membrane Proteins
  • Muscle Proteins