Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency (CMS9)

Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 9, is related to anosognosia and myasthenic syndrome, congenital, 15. An important gene associated with Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Development Endothelin-1/EDNRA transactivation of EGFR and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and dysphagia