title: Genetic linkage heterogeneity in myotubular myopathy.
abstract: Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies. To date, published linkage studies have provided no evidence of genetic heterogeneity in severe neonatal myotubular myopathy (XLMTM). We have investigated a family with typical XLMTM in which no linkage to these markers was found. Our findings strongly suggest genetic heterogeneity in myotubular myopathy and indicate that great care should be taken when using Xq28 markers in linkage studies for prenatal diagnosis and genetic counseling.
authors.affiliation: CNRS URA 1159, Le Plessis Robinson, France.
authors.forename: F
authors.initials: F
authors.lastname: Samson
authors.forename: L
authors.initials: L
authors.lastname: Mesnard
authors.forename: M
authors.initials: M
authors.lastname: Heimburger
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
authors.forename: M
authors.initials: M
authors.lastname: Chevallay
authors.forename: J J
authors.initials: JJ
authors.lastname: Mercadier
authors.forename: J F
authors.initials: JF
authors.lastname: Pelissier
authors.forename: N
authors.initials: N
authors.lastname: Feingold
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D002874:Chromosome Mapping; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
chemical_list: D005819:Genetic Markers