Two novel DNA sequence variants of GLUT1 in patient with myelomeningocele (MM). A, Novel variant identified within intron 7 (c.972+17t>a), 17 bases from exon 7. B, Sequence from same area of intron 7 as (A), showing sequence without variant. C, Novel variant within exon 8 (c.1016T>C) which results in an amino acid change at isoleucine 339 (p.Ile339Thr). D, Same locus as C, without variant seen.