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Rigshospitalet - a part of Copenhagen University Hospital
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MYO-MRI diagnostic protocols in genetic myopathies

Research output: Contribution to journalReviewResearchpeer-review

  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Jodi Warman Chardon
  • Jordi Díaz-Manera
  • Giorgio Tasca
  • Carsten G Bönnemann
  • David Gómez-Andrés
  • Arend Heerschap
  • Eugenio Mercuri
  • Francesco Muntoni
  • Anna Pichiecchio
  • Enzo Ricci
  • Maggie C Walter
  • Michael Hanna
  • Heinz Jungbluth
  • Jasper M Morrow
  • Roberto Fernández Torrón
  • Bjarne Udd
  • John Vissing
  • Tarek Yousry
  • Susana Quijano-Roy
  • Volker Straub
  • Robert Y Carlier
  • MYO-MRI Working Group
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Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.

Original languageEnglish
JournalNeuromuscular disorders : NMD
Volume29
Issue number11
Pages (from-to)827-841
Number of pages15
ISSN0960-8966
DOIs
Publication statusPublished - 2019

    Research areas

  • Congenital myopathy, Inflammatory myopathy, Inherited myopathy, Limb girdle muscular dystrophy, Magnetic resonance imaging, Whole-body MRI

ID: 58451448