A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21

We recently mapped a locus for a new variant of autosomal dominant myopathy (Swedish families) with proximal muscle weakness, early respiratory muscle involvement, and unique muscle biopsy findings to chromosomal region 2q24- 31. In this study, a French family with a similar clinical phenotype and pa thology (muscle biopsy) was investigated to see whether the disease gene as sociated with the myopathy is mapped to the same region as the one in the S wedish families: however, chromosomal region 2q24-q31 was completely exclud ed. in order to localise the disease gene for the French family, a genome-w ide scan was performed using polymorphic microsatellite markers. A maximum two-point lod score of 2.11 (the highest lod score that can be achieved in this family) was obtained for the markers in the region between D2S1272 and D2S1260, spanning 4 chi. This result suggests that the gene responsible fo r the French form is likely to be located on chromosome 2q21. (C) 1999 Else vier Science B.V. All rights reserved.