Literature DB >> 25443993

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.

Alain Meyer1, Béatrice Lannes2, Raphaël Carapito3, Seiamak Bahram3, Andoni Echaniz-Laguna4, Bernard Geny5, Jean Sibilia6, Jacques Eric Gottenberg6.   

Abstract

Eosinophilic myositis is characterized by eosinophilic infiltration of skeletal muscles. In the absence of an identifiable causative factor or source (including parasitic infection, intake of drugs or L-tryptophan, certain systemic disorders as well as malignant diseases), the diagnosis of idiopathic eosinophilic myositis is usually retained. However, some muscular dystrophies have been recently identified in this subset of eosinophilic myositis. Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was "idiopathic" eosinophilic myositis. This report suggests that in "idiopathic" eosinophilic myositis, clinicians should consider muscular dystrophies, including DM2.
Copyright © 2014 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Eosinophilic myositis; Inflammatory myopathies; Myositis; Myotonic dystrophy type 2; Polymyositis

Mesh:

Substances:

Year:  2014        PMID: 25443993     DOI: 10.1016/j.nmd.2014.09.009

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  5 in total

1.  RNAcompete methodology and application to determine sequence preferences of unconventional RNA-binding proteins.

Authors:  Debashish Ray; Kevin C H Ha; Kate Nie; Hong Zheng; Timothy R Hughes; Quaid D Morris
Journal:  Methods       Date:  2016-12-10       Impact factor: 3.608

2.  Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder.

Authors:  Josef Finsterer; Johannes Huber
Journal:  Case Rep Neurol       Date:  2017-04-24

3.  CNBP acts as a key transcriptional regulator of sustained expression of interleukin-6.

Authors:  Eunhye Lee; Taeyun A Lee; Ji Hyun Kim; Areum Park; Eun A Ra; Sujin Kang; Hyun Jin Choi; Junhee L Choi; Hyunbin D Huh; Ji Eun Lee; Sungwook Lee; Boyoun Park
Journal:  Nucleic Acids Res       Date:  2017-04-07       Impact factor: 16.971

Review 4.  Secondary myopathy due to systemic diseases.

Authors:  J Finsterer; W N Löscher; J Wanschitz; S Quasthoff; W Grisold
Journal:  Acta Neurol Scand       Date:  2016-02-25       Impact factor: 3.209

5.  Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2.

Authors:  Stojan Peric; Jelena Zlatar; Luka Nikolic; Vukan Ivanovic; Jovan Pesovic; Ivana Petrovic Djordjevic; Svetlana Sreckovic; Dusanka Savic-Pavicevic; Giovanni Meola; Vidosava Rakocevic-Stojanovic
Journal:  Front Neurol       Date:  2022-07-18       Impact factor: 4.086

  5 in total

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