Hereditary Continuous Muscle Fiber Activity

Alias:
Continuous Muscle Fiber Activity Hereditary
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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
遗传性连续肌肉纤维活动,也称为连续肌肉纤维活动遗传,与阵发性共济失调1型和阵发性共济失调有关。与遗传性连续肌肉纤维活动有关的重要基因是KCNA1(钾电压门控通道亚家族A成员1)。相关表型为运动异常和血清肌酸激酶浓度升高。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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婴儿期
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1
9
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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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