Table 1

 POMGnT1 mutations identified in 33 patients with muscle-eye-brain disease of various ethnic origins

Patient/originMutations
Nucleotide changeExon/intronPredicted effect
1–17, 33/Finland[c.1539+1G→A]+[c.1539+1G→A]IVS17+IVS17[p.Leu472_His513del]+[p.Leu472_His513del]
18/Finland[c.1539+1G→A]+[c.879+5G→T]IVS17+IVS9[p.Leu472_His513del]+[p.Pro293_Leu294ins7;p.301X]
19/Sweden[c.1539+1G→A]+[c.1539+1G→A]IVS17+IVS17[p.Leu472_His513del]+[p.Leu472_His513del]
20/Sweden[c.1539+1G→A]+[c.879+5G→A]IVS17+IVS9[p.Leu472_His513del]+[r.spl?]
21/Norway[c.1539+1G→A]+[c.1539+1G→A]IVS17+IVS17[p.Leu472_His513del]+[p.Leu472_His513del]
22/Estonia[c.1539+1G→A]+[?]IVS17+?[p.Leu472_His513del]+[?]
23/USA[c.1539+1G→A]+[?]IVS17+?[p.Leu472_His513del]+[?]
24/USA[c.1895+1G→T]+[c.1895+1G→A]IVS21+IVS21[r.spl?]+[r.spl?]
25/USA[c.1469G→A]+[?]E17+?[p.Cys490Tyr]+[?]
26/USA[c.1539+1G→A]+[c.1539+1G→A]E17+E17[p.Leu472_His513del]+[p.Leu472_His513del]
27, 28/USA[c.1469G→A]+[c.1769G→A]E17+E20[p.Cys490Tyr]+[p.Trp590X]
29, 30/Israel[c.1469G→A]+[c.1469G→A]E17+E17[p.Cys490Tyr]+[p.Cys490Tyr]
31/Spain[c.1274G→C]+[c.1895+1_4delGTGA]E15+IVS21[p.Trp425Ser]+[p.Val633X]
32/Italy[c.1285-2A→G]+[?]IVS15+?[r.spl?]+[?]