title: X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
abstract: A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: E M
authors.initials: EM
authors.lastname: Sankila
authors.forename: J
authors.initials: J
authors.lastname: Miao
authors.forename: M
authors.initials: M
authors.lastname: Somer
authors.forename: R
authors.initials: R
authors.lastname: Salonen
authors.forename: J
authors.initials: J
authors.lastname: Rapola
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D002467:Cell Nucleus / Q000648:ultrastructure*; D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D005810:Multigene Family; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA