MEB Disease (Muscle-Eye-Brain Disease) 7
General: Autosomal recessive; possibly the same as Walker-Warburg syndrome. Ocular: Severe congenital myopia; congenital glaucoma; pallor of optic disk; retinal hypoplasia.
Clinical: Congenital muscular dystrophy; mental retardation; hydrocephalus; myoclonic jerks; high serum creatine phosphokinase.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Santauvori P, Leisti J. Muscle, eye and brain disease. In: Eriksson AW, et al., eds. Population structure and genetic disorders. Orlando, FL: Academic Press, 1981:647-651.
Santavuori P, et al. Muscle-eye brain disease and Wa1ker-Warburg syndrome [Letter]. Am J Med Genet 1990; 36: 371-372.
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