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. 2017 Aug 16;37(6):516–521. doi: 10.3343/alm.2017.37.6.516

Table 2. MLC1 (NM_015166.3) mutation status of five Korean patients with megalencephalic leukoencephalopathy with subcortical cysts.

Patient Allele 1 Allele 2
Nucleotide change Amino acid change Nucleotide change Amino acid change
Patient 1 c.337_353delinsG p.(Ile113Glyfs*4) c.337_353delinsG p.(Ile113Glyfs*4)
Patient 2 c.135delC p.(Cys46Alafs*12) c.824C > A p.Ala275Asp
Patient 3 c.824C > A p.Ala275Asp c.824C > A p.Ala275Asp
Patient 4 c.824C > A p.Ala275Asp c.824C > A p.Ala275Asp
Patient 5 c.824C > A p.Ala275Asp c.824C > A p.Ala275Asp