Article
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
European journal of ophthalmology - 1 Jan 2000
Zervos A, Hunt K E, Tong H Q, Avallone J, Morales J, Friedman N, Cohen B H, Clark B, Guo S, Gazda H, Beggs A H, Traboulsi E I
Abstract excerpt
PURPOSE: We present the clinical, genetic and histopathologic findings in two siblings with Muscle-Eye-Brain Disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. METHODS: Clinical, histopathologic and gene mapping studies of a family with two normal and two children with MEB-D. RESULTS: Two siblings presented in the...
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