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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Congenital Myopathy
Alias:
Benign Congenital Myopathy
Myopathy, Congenital
Myotonia Congenita
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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
先天性肌病,也称为良性先天性肌病,与先天性肌病13和先天性肌病10a,严重变异有关。与先天性肌病有关的重要基因是MYH7(肌球蛋白重链7),其相关通路/超级通路包括ARP-WASP复合物介导的肌动蛋白核化和DREAM抑制和二氢吗啡肽表达。在该疾病的背景下提到了拉莫三嗪和美西律。附属组织包括骨骼肌和大脑,相关表型为肌病和神经系统异常。
Related ID:
MALACARDS:CNG464
ICD11:1185572073
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
84
3
CNG464
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
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Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
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