Myopathy, Centronuclear, 2 (CNM2)

Alias:
Autosomal Recessive Centronuclear Myopathy
Myopathy, Centronuclear, Autosomal Recessive
Centronuclear Myopathy 2
Ar-Cnm
Cnm2
Centronuclear Myopathy Autosomal Recessive
Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy
Myopathy, Centronuclear, Type 2
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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
肌病,中心核型,2,也称为常染色体隐性中心核型肌病,与肌病,中心核型,5和中心核型肌病有关,症状包括眼肌麻痹、鸭步和面瘫。与肌病,中心核型,2有关的重要基因是BIN1(桥接整合器1),其相关通路/超级通路包括网格蛋白介导的内吞作用。相关组织包括骨骼肌和心脏,相关表型为面瘫和高腭。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
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34
279
9

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

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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
Journal
Year
IF
No Data Found!
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