Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries1. We present a 23-year-old Brazilian female, without such ancestries, with slowly progressive distal and proximal weakness in her lower limbs since the age of 18. Within five years, weakness progressed to her upper limbs and led to loss of ambulation (sparing the quadriceps somewhat). The muscle biopsy is shown in the Figure. Exome analysis revealed compound heterozygous variants on GNE gene (p.Arg193Cys, known2, and p.Arg132Cys, novel). This is the first South American patient report, which illustrates the utility of high-throughput sequencing to diagnose rare and potentially treatable disorders1,3.