title: X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.
abstract: We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable to sublocalise the XLMTM locus further within the Xq28 region. This evidence for an Xq28 localisation may allow us to carry out useful genetic counselling within such families.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: H
authors.initials: H
authors.lastname: Williams
authors.forename: G
authors.initials: G
authors.lastname: Cole
authors.forename: K
authors.initials: K
authors.lastname: Roberts
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.forename: S
authors.initials: S
authors.lastname: Liechti-Gallati
authors.forename: S
authors.initials: S
authors.lastname: Braga
authors.forename: A
authors.initials: A
authors.lastname: Gerber
authors.forename: C
authors.initials: C
authors.lastname: Meier
authors.forename: H
authors.initials: H
authors.lastname: Moser
mesh_terms: D002467:Cell Nucleus / Q000648:ultrastructure*; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers