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

Lookup NU author(s): Dr Louise VB Anderson

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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 metadata

Author(s): Von Tell D, Bruder CEG, Anderson LVB, Anvret M, Ahlberg G

Publication type: Article

Publication status: Published

Journal: Neurogenetics

Year: 2003

Volume: 4

Issue: 4

Pages: 173-177

ISSN (print): 1364-6745

ISSN (electronic): 1364-6753

Publisher: Springer

URL: http://dx.doi.org/10.1007/s10048-003-0154-z

DOI: 10.1007/s10048-003-0154-z

PubMed id: 12836053

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