Article
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Annals of neurology - 1 Dec 2010
Rotstein Michael, Engelstad Kristin, Yang Hong, Wang Dong, Levy Brynn, Chung Wendy K, De Vivo Darryl C
Abstract excerpt
Two families manifesting Glut1 deficiency syndrome (DS) as an autosomal recessive trait are described. In 1 family, a severely affected boy inherited a mutated allele from his asymptomatic heterozygous mother. A de novo mutation developed in the paternal allele, producing compound heterozygosity. In another family, 2 mildly affected sisters inherited mutations from their asymptomatic heterozygous consanguineous...
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