Myasthenic Syndrome, Congenital, 4b, Fast-Channel (CMS4B)

Alias:
Congenital Myasthenic Syndrome 4b
Cms4b
Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
Congenital Myasthenic Syndrome 4b Fast-Channel
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myasthenic Syndrome, Congenital, 4b, Fast-Channel, also known as congenital myasthenic syndrome 4b, is related to brain angioma and myasthenic syndrome, congenital, 4a, slow-channel. An important gene associated with Myasthenic Syndrome, Congenital, 4b, Fast-Channel 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 related phenotypes are ophthalmoplegia and weakness of facial musculature
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
35
10

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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