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Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Alexandre Guérémy1, V Morel2, T Stojkovic3

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Summary

Limb-girdle muscular dystrophy type R8 (LGMDR8) is rare in non-Hutterite populations. This study of French patients found variable onset and no clear genotype-phenotype correlation for LGMDR8.

Keywords:
TRIM32LGMDR8genotype–phenotype correlationlimb‐girdle muscular dystrophymuscle MRImuscle biopsy

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Limb-girdle muscular dystrophy type R8 (LGMDR8) is an autosomal recessive condition caused by TRIM32 gene variants.
  • It is exceptionally rare, with most reported cases in the Hutterite population due to a founder effect.

Purpose of the Study:

  • To characterize a cohort of European LGMDR8 patients.
  • To explore potential genotype-phenotype correlations in LGMDR8.

Main Methods:

  • Retrospective, multicenter study of 14 French patients with genetically confirmed LGMDR8.
  • Collected and analyzed clinical, histological, electrodiagnostic, imaging, and genetic data.
  • Compared findings with previously published LGMDR8 cases.

Main Results:

  • Slowly progressive disease with mean age at onset of 25.1 years.
  • Proximal lower limb weakness was the primary symptom; upper and distal lower limb weakness occurred in most patients.
  • Six patients lost ambulation; no cardiac or respiratory involvement was noted. Fourteen distinct pathogenic TRIM32 variants were identified, including eight novel ones.

Conclusions:

  • LGMDR8 is very rare outside the Hutterite population.
  • Age of onset for LGMDR8 is highly variable.
  • TRIM32 variants across protein domains did not correlate with clinical severity in this cohort.