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ENCongenital Myasthenic Syndromes with Glycosylation Defect
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Congenital Myasthenic Syndromes with Glycosylation Defect is related to congenital muscular dystrophy-dystroglycanopathy a14 and myasthenic syndrome, congenital, 14. An important gene associated with Congenital Myasthenic Syndromes with Glycosylation Defect is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include eye, and related phenotypes are high palate and pes planus
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MALACARDS
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