Myasthenic Syndrome, Congenital, 1a, Slow-Channel (CMS1A)

Myasthenic Syndrome, Congenital, 1a, Slow-Channel(来自ICD-11)

别称:

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

Myasthenic Syndrome, Slow-Channel Congenital

Cms1a

Congenital Myasthenic Syndrome Type Iia

Cms Iia

Cms2a

Sccms

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Cms Iia, Formerly

Cms2a, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 1a, Slow-Channel, also known as congenital myasthenic syndrome 1a, is related to myasthenic syndrome, congenital, 6, presynaptic and myasthenic syndrome, congenital, 4a, slow-channel. An important gene associated with Myasthenic Syndrome, Congenital, 1a, Slow-Channel is CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit), and among its related pathways/superpathways are Acetylcholine binding and downstream events and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are high palate and upper limb muscle weakness

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