TableĀ 1

The mutations in infantile neuroaxonal dystrophy patients

FamilyGeneExonNatureEffect on cDNAEffect on protein
1PLA2G6Exon 11Missensec.1451A>Gp.D484G
2PLA2G6Exon 3Frameshiftc.402delCp.F135SfsX79
3PLA2G6Exon 14Missensec.1982C>Tp.T661M
4PLA2G6Exon 11Frameshiftc.1545_1546insGCp.G517RfsX29
5NALCNExon 16Stopgainc.1924C>Tp.Q642X