Article
PMM2-CDG: phenotype and genotype in four affected family members.
Gene - 1 Dec 2013
Bortot Barbara, Cosentini Dora, Faletra Flavio, Biffi Stefania, De Martino Eleonora, Carrozzi Marco, Severini Giovanni Maria
Abstract excerpt
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations. Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His, while two paternal great-aunts are...
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