title: Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis.
abstract: X-linked Emery-Dreifuss muscular dystrophy (EMD) is a very rare, relatively benign muscle disorder. The disease is associated with potentially lethal cardiac arrhythmias in affected males and some heterozygous females. X-linked EMD can be genetically distinguished from phenotypically similar autosomal EMD. Heterogenic mutations are identified as the cause of X-linked EMD. We introduced heteroduplex analysis to follow the segregation of heterogenic emerin gene mutations in the families of six unrelated EMD patients. Heteroduplex analysis was proved to be a simple, fast and reliable tool for direct molecular genetic diagnosis of EMD in male patients and identification of heterozygotes even in families where affected males are not available as index cases.
authors.affiliation: Institute for Human Genetics, Ernst-Moritz-Arndt University, Greifswald, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: U
authors.initials: U
authors.lastname: Ebener
authors.forename: C S
authors.initials: CS
authors.lastname: Wehnert
authors.forename: P A
authors.initials: PA
authors.lastname: Ward
authors.forename: U
authors.initials: U
authors.lastname: Reuner
authors.forename: W
authors.initials: W
authors.lastname: Hiebsch
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D009687:Nuclear Proteins; D009692:Nucleic Acid Heteroduplexes / Q000737:chemistry*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome / Q000737:chemistry*
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D009692:Nucleic Acid Heteroduplexes; D013946:Thymopoietins; C092710:emerin