A genetic isolate of limb-girdle muscular dystrophy in Uruguay

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Clinicians and researchers in Montevideo, Uruguay, report clinical and biological data from the world’s largest cohort of autosomal dominant limb-girdle muscular dystrophy linked to the HNRNPDL gene (LGMD type D3):

  • a pathogenic variant of HNRNPDL (Asp378His) was identified in 49 symptomatic and 10 asymptomatic patients living in the city of Nueva Palmira, in the far west of the country;
  • all were of European descent;
  • they did not belong to the same family, although a founder effect is more than likely in this cohort;
  • the clinical picture consisted of pelvic-scapular muscle weakness beginning in adulthood (rather late) with slow progression and few comorbidities,
  • the authors highlight the existence of a fairly specific pattern in muscle imaging.

This isolate adds to the seven families of LGMD-D3 already reported worldwide.

 

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. Demicheli E, Zamora A, Sánchez N et al. Eur J Neurol. 2025 Sep

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