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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.
AuthorsJunhui Yuan, Masahiro Ando, Itsuro Higuchi, Yusuke Sakiyama, Eiji Matsuura, Kumiko Michizono, Osamu Watanabe, Shinjiro Nagano, Yukie Inamori, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima
JournalInternal medicine (Tokyo, Japan) (Intern Med) Vol. 53 Issue 14 Pg. 1563-8 ( 2014) ISSN: 1349-7235 [Electronic] Japan
PMID25030574 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin
  • DNA
Topics
  • Biopsy
  • Chromosomes, Human, X (genetics)
  • DNA (genetics)
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Proteins (deficiency, genetics)
  • Muscle, Skeletal (diagnostic imaging, metabolism, pathology)
  • Muscular Dystrophy, Emery-Dreifuss (diagnosis, genetics, metabolism)
  • Mutation
  • Nuclear Proteins (deficiency, genetics)
  • Polymerase Chain Reaction
  • Thymopoietins
  • Tomography, X-Ray Computed
  • Young Adult

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