title: Linkage of hereditary distal myopathy with desmin accumulation to 2q.
abstract: We are investigating the genetics of a large family with an autosomal dominant form of hereditary distal myopathy. This slowly progressive myopathy begins during early adulthood in the distal leg muscles, producing a gait disturbance. Cardiomyopathy is also present in most affected family members, manifesting itself as conduction block or congestive heart failure. Histologically, an accumulation of the protein, desmin, occurs in the subsarcolemmal spaces of myofibers. We have performed linkage analyses of this family, and have mapped the location of the gene causing the myopathy to human chromosome 2q33. The gene is within a 17-cM segment of chromosome 2q bounded by the DNA markers D2S2248 and D2S401. The best candidate gene for this myopathy is desmin.
authors.affiliation: Laboratory of Human Genetics, Division of Genetic Disorders, Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany, N.Y., USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Saavedra-Matiz
authors.forename: N H
authors.initials: NH
authors.lastname: Chapman
authors.forename: E M
authors.initials: EM
authors.lastname: Wijsman
authors.forename: S H
authors.initials: SH
authors.lastname: Horowitz
authors.forename: D R
authors.initials: DR
authors.lastname: Rosen
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003893:Desmin / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree
chemical_list: D003893:Desmin; D005819:Genetic Markers