title: Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.
abstract: We report on a family in which individuals have clinical features of both Emery-Dreifuss syndrome (EMD) and X-linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: L J
authors.initials: LJ
authors.lastname: Schram
authors.forename: G
authors.initials: G
authors.lastname: Wallis
authors.forename: A
authors.initials: A
authors.lastname: Oswald
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D002874:Chromosome Mapping; D003286:Contracture / Q000235:genetics*; D015342:DNA Probes; D008040:Genetic Linkage; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
chemical_list: D015342:DNA Probes