Article
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2008
Teber Serap, Sezer Taner, Kafali Mehpare, Manzini M Chiara, Konuk Yüksel Berrin, Tekin Mustafa, Fitöz Suat, Walsh Christopher A, Deda Gülhis
Abstract excerpt
Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the...
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