Myoclonic Cerebellar Dyssynergia

Alias:
Dyssynergia Cerebellaris Myoclonica
Progressive Cerebellar Tremor
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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
肌阵挛性小脑共济失调,又称为亨特氏肌阵挛性小脑共济失调和光诱发阵挛反应1,与亨特氏肌阵挛性小脑共济失调和光诱发阵挛反应1有关。与肌阵挛性小脑共济失调相关的基因是NUS1(NUS1脱氢多巴二磷酸合成酶亚基)。
Related ID:
MESH:D002527

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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6
42
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Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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