Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy

Acta Neuropathol. 2024 Sep 4;148(1):38. doi: 10.1007/s00401-024-02798-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Muscle Proteins / genetics
  • Muscle, Skeletal / pathology
  • Mutation* / genetics
  • Myopathies, Structural, Congenital* / genetics
  • Myopathies, Structural, Congenital* / pathology
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics

Substances

  • Muscle Proteins
  • Protein Tyrosine Phosphatases, Non-Receptor
  • Homeodomain Proteins

Supplementary concepts

  • Myofibrillar Myopathy