Muscle eye brain disease (MEB) is a disorder that is inherited in an autosomal recessive manner through mutations in the POMGNT1 gene. MEB is a form of congenital muscular dystrophy, and people with this disorder typically have very little control over their muscle movement. Other symptoms of MEB include vision impairments such as myopia and glaucoma, as well as brain abnormalities leading to mental disabilities and facial deformities. Muscle eye brain disease is very rare, and the severity varies on an individual basis, but most patients die between the ages of 6 and 16. However, there is currently no successful treatment for this disorder, and doctors focus mainly on preserving whatever functions the patient still has.
Muscle Eye Brain Disease Bioinformatics Tool
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Muscle Eye Brain Disease below!
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We have 153 products for the study of Muscle Eye Brain Disease that can be applied to Western Blot, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.