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.
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Acknowledgements.
We wish to thank all the family members who participated in this study. The work was supported by grants from the Swedish Medical Research Council, the Torsten and Ragnar Söderberg Foundation, The Swedish Association of Neurologically Disabled, Karolinska Insitutet, and Augusta and Petrus Hedlunds Foundation, and approved by the Karolinska Hospital Ethics Committee. We thank Dr. Cilla Söderhäll for revision of the linkage analysis.
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von Tell, D., Bruder, C.E.G., Anderson, L.V.B. et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. Neurogenetics 4, 173–177 (2003). https://doi.org/10.1007/s10048-003-0154-z
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DOI: https://doi.org/10.1007/s10048-003-0154-z