Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (CMS4C)

Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency(来自ICD-11)

别称:

Congenital Myasthenic Syndrome 4c

Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency

Cms4c

Myasthenia, Familial Infantile, 1, Formerly

Myasthenic Syndrome, Congenital, Type Id

Congenital Myasthenic Syndrome Type Id

Cms Id, Formerly

Cms Id

Cms1d

Fim1

Congenital Myasthenic Syndrome with Facial Dysmorphism Associated with Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Post-Synaptic Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 4c, Associated with Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Defi

Congenital Myasthenic Syndrome Type 1d

Congenital Myasthenic Syndrome Type 1e

Congenital Myasthenic Syndrome Type Ie

Myasthenic Syndrome, Congenital, Ie

Myasthenia, Familial Infantile, 1

Familial Infantile Myasthenia 1

Cms1d, Formerly

Fim1, Formerly

Cms-Achrd

Cms Ie

Cms1e

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 4c, is related to myasthenic syndrome, congenital, 4a, slow-channel and congenital myasthenic syndrome, and has symptoms including muscle cramp, facial paresis and ophthalmoparesis. An important gene associated with Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Acetylcholine binding and downstream events. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are ptosis and ophthalmoparesis

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