Article
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics - 1 Nov 2007
Hehr Ute, Uyanik Goekhan, Gross Claudia, Walter Maggie C, Bohring Axel, Cohen Monika, Oehl-Jaschkowitz Barbara, Bird Lynne M, Shamdeen Ghiat M, Bogdahn Ulrich, Schuierer Gerhard, Topaloglu Haluk, Aigner Ludwig, Lochmüller Hanns, Winkler Jürgen
Abstract excerpt
Muscle-eye-brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural eye abnormalities, and cobblestone lissencephaly. Clinically, MEB patients present with early onset muscular hypotonia, severely compromised motor development, and mental retardation. Magnetic resonance imaging reveals a lissencephaly type II with hypoplasia...
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