GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries[1]. 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, known[2], 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 disorders[1],[3].
Figure Dystrophic pattern with rimmed vacuoles with autophagic aspect (arrows) on muscle biopsy. A) H&E (bar= 50 μm). B) Gomori's trichrome (bar= 50 μm). C) Acid phosphatase (bar= 50 μm). D) Electron microscopy (bar = 1000 nm).
