Skip to main content

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