title: Partial deficiency of emerin caused by a splice site mutation in EMD.
abstract: Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the EMD gene on the X chromosome, which codes for emerin, an inner nuclear membrane protein. Monoclonal antibodies against the N-terminus of emerin protein are used to screen for emerin deficiency in clinical practice. However, these tests may not accurately reflect the disease in some cases. We herein describe the identification of a splice site mutation in the EMD gene in a Japanese patient who suffered from complete atrioventricular conduction block, mild muscle weakness and joint contracture, and a persistently elevated serum creatine kinase level. We used multiple antibodies to confirm the presence of a novel truncating mutation in emerin without the transmembrane region and C-terminus in the skeletal muscle.
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Junhui
authors.initials: J
authors.lastname: Yuan
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ando
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: Eiji
authors.initials: E
authors.lastname: Matsuura
authors.forename: Kumiko
authors.initials: K
authors.lastname: Michizono
authors.forename: Osamu
authors.initials: O
authors.lastname: Watanabe
authors.forename: Shinjiro
authors.initials: S
authors.lastname: Nagano
authors.forename: Yukie
authors.initials: Y
authors.lastname: Inamori
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Akiko
authors.initials: A
authors.lastname: Yoshimura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
mesh_terms: D001706:Biopsy; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000172:deficiency* / Q000235:genetics; D016133:Polymerase Chain Reaction; D013946:Thymopoietins; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D004247:DNA