Congenital Myopathy 24 (CMYP4)

Alias:
Nemaline Myopathy 11, Autosomal Recessive
Nem11
Mypn-Related Myopathy
Nemaline Myopathy 11
Cmyp4
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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24,也称为Nemaline肌病11,常染色体隐性遗传,与Nemaline肌病11和Nemaline肌病有关。与先天性肌病24有关的重要基因是MYPN(肌球蛋白结合蛋白)。相关组织包括骨骼肌和心脏,相关表型为肌肉无力和1型肌纤维占优势。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
5
2

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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