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

J Neuromuscul Dis. 2019;6(1):143-146. doi: 10.3233/JND-180350.


TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.

Keywords: MuRF1; Myopathy; TRIM63; cardiac hypertrophy; hypertrophic cardiomyopathy; myopathy with internalized capillaries.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Cardiomegaly / diagnostic imaging
  • Cardiomegaly / genetics*
  • Cardiomegaly / pathology
  • Cardiomegaly / physiopathology
  • Codon, Nonsense*
  • Diagnosis, Differential
  • Female
  • Homozygote
  • Humans
  • Muscle Proteins / genetics*
  • Muscular Diseases / diagnostic imaging
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Phenotype
  • Tripartite Motif Proteins / genetics*
  • Ubiquitin-Protein Ligases / genetics*


  • Codon, Nonsense
  • Muscle Proteins
  • Tripartite Motif Proteins
  • TRIM63 protein, human
  • Ubiquitin-Protein Ligases