Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ethnic Groups / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging
  • Muscular Diseases / diagnostic imaging
  • Muscular Diseases / genetics
  • Muscular Diseases / physiopathology
  • Muscular Dystrophies, Limb-Girdle / diagnostic imaging
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / physiopathology
  • Mutation
  • Transcription Factors / genetics*
  • Tripartite Motif Proteins / genetics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Transcription Factors
  • Tripartite Motif Proteins
  • TRIM32 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Limb-girdle muscular dystrophy type 2H