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.
Vajsar, in Neuromuscular Disorders, describe a diagnostic technique.
Clinical features, genetics, and a comment on possible presence outside Finland.
Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients.
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