Welander distal myopathy is not linked to other defined distal myopathy gene loci

被引:13
作者
Ahlberg, G [1 ]
Borg, K [1 ]
Edstrom, L [1 ]
Anvret, M [1 ]
机构
[1] KAROLINSKA HOSP,DEPT NEUROL,S-17176 STOCKHOLM,SWEDEN
关键词
Welander distal myopathy; exclusion mapping; linkage; allelic heterogeneity;
D O I
10.1016/S0960-8966(97)00451-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Welander distal myopathy is an autosomal dominant disorder with late onset that affects extensor muscles of the hands and the feet. The disorder is considered as the most prevalent of the distal myopathies and is almost only seen in Sweden and in some parts of Finland. On clinical, morphological and genetical grounds the disorder is clearly separated from other distal myopathies. We have performed linkage analysis with the MLINK program in a total of six families with microsatellite markers dispersed throughout the genome and report exclusion for the localisation of the gene of 64% of the human genome, These studies have clearly separated Welander distal myopathy from previously mapped forms of distal myopathy such as the Miyoshi myopathy by excluding linkage to chromosome 2. The region on 14q that has been suggested to house the gene of the distal myopathy described by Laing et al. (Am J Hum Genet 1995;56:422-7), has as well been excluded by several markers. (C) 1997 Elsevier Science B.V.
引用
收藏
页码:256 / 260
页数:5
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