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ENMuscle-Eye-Brain Disease
Alias:
Muscle-Eye-Brain Syndrome
Muscle Eye Brain Disease
Santavuori Congenital Muscular Dystrophy
Meb Syndrome
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Muscle-Eye-Brain Disease, also known as muscle-eye-brain syndrome, is related to muscular dystrophy-dystroglycanopathy , type a, 3 and muscular dystrophy-dystroglycanopathy , type a, 8. An important gene associated with Muscle-Eye-Brain Disease is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are Metabolism of proteins and DREAM Repression and Dynorphin Expression. Affiliated tissues include eye and brain, and related phenotypes are eeg abnormality and gait disturbance
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