Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy

mitsuru watanabe, Hirofumi Ochi, Hajime Arahata, Tomohito Matsuo, Seiho Nagafuchi, Yasumasa Ohyagi, Jun-Ichi Kira

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Introduction: 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.

Original languageEnglish
Pages (from-to)904-908
Number of pages5
JournalMuscle and Nerve
Volume45
Issue number6
DOIs
Publication statusPublished - Jun 1 2012

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Autoimmune Polyendocrinopathies
Muscular Diseases
Regulator Genes
Muscles
Paraspinal Muscles
Gene Expression
Mutation
Reverse Transcriptase Polymerase Chain Reaction
Healthy Volunteers
Extremities
Type 1 Autoimmune polyendocrinopathy syndrome
Biopsy

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. / watanabe, mitsuru; Ochi, Hirofumi; Arahata, Hajime; Matsuo, Tomohito; Nagafuchi, Seiho; Ohyagi, Yasumasa; Kira, Jun-Ichi.

In: Muscle and Nerve, Vol. 45, No. 6, 01.06.2012, p. 904-908.

Research output: Contribution to journalArticle

watanabe, M, Ochi, H, Arahata, H, Matsuo, T, Nagafuchi, S, Ohyagi, Y & Kira, J-I 2012, 'Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy', Muscle and Nerve, vol. 45, no. 6, pp. 904-908. https://doi.org/10.1002/mus.23321
watanabe M, Ochi H, Arahata H, Matsuo T, Nagafuchi S, Ohyagi Y et al. Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. Muscle and Nerve. 2012 Jun 1;45(6):904-908. https://doi.org/10.1002/mus.23321
watanabe, mitsuru ; Ochi, Hirofumi ; Arahata, Hajime ; Matsuo, Tomohito ; Nagafuchi, Seiho ; Ohyagi, Yasumasa ; Kira, Jun-Ichi. / Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. In: Muscle and Nerve. 2012 ; Vol. 45, No. 6. pp. 904-908.
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