Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b (CMT2A2B)

Alias:
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b;
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
Cmt2a2b
Charcot-Marie-Tooth Disease, Axonal, 2a2b
Charcot-Marie-Tooth Disease, Type 2a2b
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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
Charcot-Marie-Tooth病,轴突型,常染色体隐性,2a2b型,也被称为Charcot-Marie-Tooth病,轴突型,2a2b型,与Charcot-Marie-Tooth病2a2b型有关。与Charcot-Marie-Tooth病,轴突型,常染色体隐性,2a2b型相关的基因是MFN2(融合蛋白2)。相关组织包括周围神经,相关表型包括由于肌肉无力和行走困难导致的呼吸功能不全。
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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
12
12

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

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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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