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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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Clinical features, genetics, and a comment on possible presence outside Finland.
Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients. [PDF]
Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients. [PDF]
Clinical features, genetics, and a comment on possible presence outside Finland.
Last update:
June 9, 2019 at 13:26:46 UTC
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