Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.
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.
von Tell
Désirée
D
Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden. desiree.vontell@astrazeneca.com
Bruder
Carl E G
CE
Anderson
Louise V B
LV
Anvret
Maria
M
Ahlberg
Gabrielle
G
D015153:Blotting, Western; D002874:Chromosome Mapping / Q000379:methods; D002889:Chromosomes, Human, Pair 2; D000073939:Dysferlin; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000032:analysis / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D016615:Telomere / Q000235:genetics*
C114839:DYSF protein, human; D000073939:Dysferlin; D005819:Genetic Markers; D008565:Membrane Proteins; D009124:Muscle Proteins