Myasthenic Syndrome, Congenital, 23, Presynaptic (CMS23)

Alias:
Cms23
Myasthenic Syndrome, Congenital, Type 23, Presynaptic
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
重症肌无力,先天性,23型,前接性,也被称为cms23。重症肌无力,先天性,23型,前接性相关的基因是SLC25A1(溶质载体家族25成员1)。相关表型是易疲劳和疲劳性虚弱。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
4

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
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
Journal
Year
IF
No Data Found!
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