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Muscle eye brain disease
Other Names for this Disease
- Muscle-eye-brain disease
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congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Muscle eye brain disease is a rare form of
Last updated: 7/21/2009
- Reed UC. Arquivos de Neuro-Psiquiatria. March 2009; 67:144-168. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038&lng=en&nrm=iso&tlng=en. Accessed 7/21/2009.
- Muscle-eye-brain disease. OMIM Database. June 23, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280. Accessed 7/21/2009.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Muscle eye brain disease. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Muscle eye brain disease. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct;41(10):e115.