Neurogenetics

, Volume 4, Issue 4, pp 173–177

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

  • Désirée von Tell
  • Carl E. G. Bruder
  • Louise V. B. Anderson
  • Maria Anvret
  • Gabrielle Åhlberg
Original Article

DOI: 10.1007/s10048-003-0154-z

Cite this article as:
von Tell, D., Bruder, C.E.G., Anderson, L.V.B. et al. Neurogenetics (2003) 4: 173. doi:10.1007/s10048-003-0154-z

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.

Keywords

Welander Distal myopathy Refined mapping 2p13 Dysferlin 

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Désirée von Tell
    • 1
    • 2
    • 3
  • Carl E. G. Bruder
    • 3
  • Louise V. B. Anderson
    • 4
  • Maria Anvret
    • 5
  • Gabrielle Åhlberg
    • 1
    • 2
  1. 1.Department of Clinical NeuroscienceKarolinska HospitalStockholmSweden
  2. 2.Department of Molecular MedicineKarolinska HospitalStockholmSweden
  3. 3.Transgenics and Comparative GenomicsAstraZeneca R and DSweden
  4. 4.Department of Neurobiology and NeurologyUniversity Medical SchoolNewcastle upon TyneUK
  5. 5.AstraZeneca R and DSweden

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