title: Limb-girdle muscular dystrophy due to emerin gene mutations.
abstract: BACKGROUND
  Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.
  
  
  OBJECTIVE
  To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in EMD.
  
  
  METHODS
  Case reports.
  
  
  METHODS
  Academic research.
  
  
  METHODS
  Two male patients manifested proximal dominant muscle involvement, with minimal or no joint and cardiac involvement.
  
  
  METHODS
  Muscle biopsy and mutation analysis results.
  
  
  RESULTS
  Immunohistochemistry revealed an absence of emerin staining in muscle biopsy specimens. Mutation analysis identified nonsense mutations in EMD.
  
  
  CONCLUSIONS
  Mutations in EMD may indicate a limb-girdle muscular dystrophy phenotype. Identification of emerin deficiency among patients with limb-girdle muscular dystrophy is essential to prevent cardiac catastrophe.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.
authors.forename: Shigehisa
authors.initials: S
authors.lastname: Ura
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Mina Nolasco
authors.initials: MN
authors.lastname: Astejada
authors.forename: Terumi
authors.initials: T
authors.lastname: Murakami
authors.forename: Masako
authors.initials: M
authors.lastname: Nagato
authors.forename: Shigeru
authors.initials: S
authors.lastname: Ohta
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Daimon
authors.forename: Hidehiro
authors.initials: H
authors.lastname: Takekawa
authors.forename: Koichi
authors.initials: K
authors.lastname: Hirata
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D001706:Biopsy; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005121:Extremities / Q000473:pathology; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006327:Heart Block / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005819:Genetic Markers; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin