You are here

  • Home
  • Online First
  • Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare

Article Text

Article menu

other Versions

Download PDFPDF
Editorial commentary
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare
  1. Akinori Uruha1,2,
  2. Ichizo Nishino1,2
  1. 1Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan
  2. 2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
  1. Correspondence to Dr Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; nishino{at}ncnp.go.jp

https://doi.org/10.1136/jnnp-2013-305394

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Titinopathy should be considered in myofibrillar myopathy with respiratory muscle involvement regardless of ethnic background

    Respiratory failure in adult myopathy patients is rare. Nevertheless, it is often a characteristic clinical feature that can be a clue for the diagnosis of a certain group of muscle diseases, including Pompe disease and congenital myopathy. Two reports by Palmio et al1 and Pfeffer et al2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide.

    HMERF was first described as adult-onset myopathy with acute respiratory …

    View Full Text

    Footnotes

    • Contributors AU performed literature search and wrote the editorial together with IN. IN is the guarantor.

    • Competing interests None.

    • Provenance and peer review Commissioned; internally peer reviewed.

    Linked Articles

    • Neurogenetics
      Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
      Gerald Pfeffer Rita Barresi Ian J Wilson Steven A Hardy Helen Griffin Judith Hudson Hannah R Elliott Aravind V Ramesh Aleksandar Radunovic John B Winer Sujit Vaidya Ashok Raman Mark Busby Maria E Farrugia Alec Ming Chris Everett Hedley C A Emsley Rita Horvath Volker Straub Kate Bushby Hanns Lochmüller Patrick F Chinnery Anna Sarkozy
      Journal of Neurology, Neurosurgery & Psychiatry 2013; 85 331-338 Published Online First: 13 Mar 2013. doi: 10.1136/jnnp-2012-304728
    • Neuromuscular
      Hereditary myopathy with early respiratory failure: occurrence in various populations
      Johanna Palmio Anni Evilä Françoise Chapon Giorgio Tasca Fengqing Xiang Björn Brådvik Bruno Eymard Andoni Echaniz-Laguna Jocelyn Laporte Mikko Kärppä Ibrahim Mahjneh Rosaline Quinlivan Pascal Laforêt Maxwell Damian Andres Berardo Ana Lia Taratuto Jose Antonio Bueri Johanna Tommiska Taneli Raivio Matthias Tuerk Philipp Gölitz Frederic Chevessier Caroline Sewry Fiona Norwood Carola Hedberg Rolf Schröder Lars Edström Anders Oldfors Peter Hackman Bjarne Udd
      Journal of Neurology, Neurosurgery & Psychiatry 2013; 85 345-353 Published Online First: 19 Apr 2013. doi: 10.1136/jnnp-2013-304965