Premium
Genetic linkage of Welander distal myopathy to chromosome 2p13
Author(s) -
Åhlberg Gabrielle,
Von Tell Désirée,
Borg Kristian,
Edström Lars,
Anvret Maria
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199909)46:3<399::aid-ana16>3.0.co;2-q
Subject(s) - locus (genetics) , haplotype , myopathy , facioscapulohumeral muscular dystrophy , genetics , genetic linkage , microsatellite , biology , pedigree chart , lod score , muscular dystrophy , chromosome , genetic heterogeneity , gene mapping , dysferlin , gene , genotype , allele , phenotype
Welander distal myopathy (WDM) is an autosomal dominant myopathy with late‐adult onset characterized by slow progression of distal muscle weakness. The disorder is considered a model disease for hereditary distal myopathies and is almost only seen in Sweden and some parts of Finland. A genomewide screening has been performed in initially two Swedish families with 400 highly polymorphic microsatellite markers. We report here that the disease is linked to chromosome 2p13. Seven additional nonrelated families have subsequently been mapped to the same area where a maximum two‐point LOD score of 17.97 was obtained with the marker D2S2113 at 0.0 recombination fraction. The region has been restricted by recombinations and the finding of a common shared haplotype through all analyzed families. This restricts the gene locus region to 2.4 cM. These findings provide evidence for the involvement of a single locus for WDM. The WDM region overlaps with the linkage region for Miyoshi myopathy and limb‐girdle muscular dystrophy 2B. The dysferlin gene responsible for these disorders is considered a primary candidate gene for WDM.