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.
