Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (CMS11)

Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 11, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and spondylometaphyseal dysplasia, megarbane-dagher-melki type. An important gene associated with Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Mitochondrial calcium ion transport. Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and easy fatigability