Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation

Neuromuscul Disord. 2021 Sep;31(9):886-890. doi: 10.1016/j.nmd.2021.06.003. Epub 2021 Jun 11.

Abstract

TRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis of LGMD R8. This is a novel frameshift mutation and one of the very few cases of LGMD R8 reported from India.

Keywords: Frameshift mutation; India; LGMD R8; Neuropathic features; TRIM 32.

Publication types

  • Case Reports

MeSH terms

  • Exome Sequencing
  • Genetic Testing
  • Homozygote
  • Humans
  • India
  • Male
  • Middle Aged
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Mutation
  • Pedigree
  • Phenotype
  • Transcription Factors / genetics*
  • Tripartite Motif Proteins / genetics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

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