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037 Apparent homozygous c.830G>A GNE myopathy in non-jewish Iraqi
  1. Nicholas Keyi Sim1,
  2. Azzam Ismail2,
  3. Mark Busby1,
  4. Spilker Cord1
  1. 1Bradford Teaching Hospitals NHS Foundation Trust
  2. 2Leeds Teaching Hospitals NHS Trust

Abstract

GNE myopathy is an adult-onset autosomal recessive distal myopathy uniquely characterised by quadri- ceps sparing. It was previously described in Japanese patients and a large ethnic cluster was identified in Jews originating from Iran. Since then, it is recognised to have a worldwide prevalence with multiple pathogenic variants. While compound heterozygous c.830G>A GNE myopathy has previously been reported, homozygous disease has only previously been reported in a non-Jewish Iranian cohort and the Indian subcontinent. Here we report a case of apparent homozygous c.830G>A GNE myopathy in a non-Jewish Iraqi patient.

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