title: X-linked myotubular myopathy: a linkage study.
abstract: Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X-chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do exist.
authors.affiliation: Department of Clinical Genetics, University of Göteborg, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Darnfors
authors.forename: H E
authors.initials: HE
authors.lastname: Larsson
authors.forename: A
authors.initials: A
authors.lastname: Oldfors
authors.forename: M
authors.initials: M
authors.lastname: Kyllerman
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: G
authors.initials: G
authors.lastname: Bjursell
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
mesh_terms: D005260:Female; D005387:Finland; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013548:Sweden; D014960:X Chromosome / Q000648:ultrastructure*