Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q

Two Swedish families with autosomal dominant myopathy, who also had proxima l weakness, early respiratory failure, and characteristic cytoplasmic bodie s in the affected muscle biopsies, were screened for linkage by means of th e human genome screening set (Cooperative Human Linkage Center Human Screen ing Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24 -q31 was established. A maximum combined two-point LOD score of 4.87 at a r ecombination fraction of 0 was obtained with marker D2S1245. Haplotype anal ysis indicated that the gene responsible for the disease is likely to be lo cated in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which sug gests a common origin.