Myasthenic Syndrome, Congenital, 2a, Slow-Channel (CMS2A)

Alias:
Cms2a
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel
Congenital Myasthenic Syndrome 2a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myasthenic Syndrome, Congenital, 2a, Slow-Channel, also known as cms2a, is related to myasthenic syndrome, congenital, 1a, slow-channel. An important gene associated with Myasthenic Syndrome, Congenital, 2a, Slow-Channel is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
4
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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