Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

M Jokela, P Baumann, S Huovinen, S Penttilä, B Udd

Research output: Contribution to journalArticleScientific

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)143-146
JournalJournal of Neuromuscular Diseases
Volume6
Issue number1
DOIs
Publication statusPublished - 2019
Publication typeB1 Journal article

Keywords

  • MuRF1
  • Myopathy
  • TRIM63
  • cardiac hypertrophy
  • hypertrophic cardiomyopathy
  • myopathy with internalized capillaries

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