Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Muscle & nerve - 1 Jun 2012

Watanabe Mitsuru, Ochi Hirofumi, Arahata Hajime, Matsuo Tomohito, Nagafuchi Seiho, Ohyagi Yasumasa, Kira Jun-Ichi

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to AIRE Protein
Share to Biopsy
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Progression

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Polyendocrinopathies, Autoimmune

Share to Transcription Factors

Source

Identifiers

PMID: 22581549
DOI: 10.1002/mus.23321

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.PMID 22581549Read ↗

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.Semantic proximity Read ↗

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophySemantic proximity Read ↗

Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge.Semantic proximity Read ↗

Where AIRE we now? Where AIRE we going?Semantic proximity Read ↗

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype CorrelationSemantic proximity Read ↗

A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.Semantic proximity Read ↗

A Novel Missense Mutation of AIRE Gene in a Patient with Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy (APECED), Accompanied with Progressive Muscular Atrophy: Case Report and Review of the Literature in Japan.Semantic proximity Read ↗

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.Semantic proximity Read ↗

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.Semantic proximity Read ↗

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.