Muscle-eye-brain disease is an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. MEB disease belongs to the group of inherited congenital muscular dystrophies (CMDs) and presents a close resemblance to Fukuyama congenital muscular dystrophy (FCMD) and Walker-Warburg congenital muscular dystrophy.
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Carriers and Patients with Muscle-Eye-Brain Disease Can Be Rapidly Diagnosed by Enzymatic Analysis of Fibroblasts and Lymphoblasts
Vajsar, in Neuromuscular Disorders, describe a diagnostic technique.
Online Inheritance in Man
Clinical features, genetics, and a comment on possible presence outside Finland.
Worldwide Distribution and Broader Clinical Spectrum of Muscle–Eye–Brain Disease
Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients. [PDF]
Last update:October 16, 2016 at 6:53:59 UTC