037 Apparent homozygous c.830G>A GNE myopathy in non-jewish Iraqi. Issue 9 (12th August 2022)

• Record Type: Journal Article
• Authors: Sim, Nicholas Keyi; Ismail, Azzam; Busby, Mark; Cord, Spilker
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93:Issue 9(2022)
• Page Start: e2
• Publication Date: 2022-08-12
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-abn2.81
• Languages: English
• ISSNs: 0022-3050

Abstract

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.