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

Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency(来自ICD-11)

别称:

Congenital Myasthenic Syndrome 11

Cms11

Myasthenic Syndrome, Congenital, Ie

Cms Ie

Cms1e

Myasthenic Syndrome, Congenital, Type 11, Associated with Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11 Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Ie, Formerly

Congenital Myasthenic Syndrome 1e

Cms Ie, Formerly

Cms1e, Formerly

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

查看原文参与反馈