title: The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.
abstract: X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134).
authors.affiliation: Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands.
authors.forename: E A
authors.initials: EA
authors.lastname: Janssen
authors.forename: G W
authors.initials: GW
authors.lastname: Hensels
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: S
authors.initials: S
authors.lastname: Kemp
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: J W
authors.initials: JW
authors.lastname: Weber
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D015342:DNA Probes; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008870:Microtubules / Q000378:metabolism*; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000378:metabolism; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers