Table 2 List of most commonly identified GNE mutations by the geographical region
From: GNE myopathy: from clinics and genetics to pathology and research strategies
Geographic region or country | Founder or high frequency mutation (hGNE2) |
|---|---|
United Kingdom | Exon 8 p.Ala662Val Exon 12p.Asp409Tyr |
Bulgaria (Roma population) | Exon 11 p.Ile618Thr |
Middle East | Exon 7 p.Met743Thr |
India | Exon 12 p.Val727Met |
Japan | Exon 3 p.Asp207Val Exon 10 p.Val603Leu |