MEB Disease Genetic Disorders Conditions and Diseases
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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MEB Disease
See Also:
- Top/Health/Conditions and Diseases/Neurological Disorders/Muscle Diseases/Muscular Dystrophies
- Top/Regional/Europe/Finland/Health/Conditions and Diseases
- Online Inheritance in Man - Clinical features, genetics, and a comment on possible presence outside Finland.
- 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.
- Worldwide Distribution and Broader Clinical Spectrum of Muscle–Eye–Brain Disease - Taniguchi et al describe possible MEB cases in Japanese, Korean conditions and diseases and Belgian patients.[PDF]
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