title: Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
abstract: BACKGROUND
  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by monogenic mutations in the autoimmune regulator (AIRE) gene. No attention has been paid to muscle manifestations in this disorder. We aimed to uncover whether progressive myopathy is a component of this disorder.
  
  
  METHODS
  A case description and literature search for APECED cases presenting with myopathy and analysis of AIRE gene expression in biopsied muscles from 4 healthy volunteers and the patient by reverse transcriptase polymerase chain reaction.
  
  
  RESULTS
  A 52-year-old woman with APECED caused by AIRE gene mutations developed progressive myopathy involving proximal limb and paraspinal muscles. Muscle biopsy specimens showed myopathic changes without inflammatory cell infiltrate. We detected AIRE gene expression in all muscle tissues examined. An extensive literature search uncovered 5 cases of APECED with myopathy, all of whom had similar features.
  
  
  CONCLUSIONS
  Progressive myopathy involvement could be a hitherto unknown manifestation of APECED.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Watanabe
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ochi
authors.forename: Hajime
authors.initials: H
authors.lastname: Arahata
authors.forename: Tomohito
authors.initials: T
authors.lastname: Matsuo
authors.forename: Seiho
authors.initials: S
authors.lastname: Nagafuchi
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Kira
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein