Congenital Myopathy 8 (CMYP8)

Alias:
Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities
Multiple Structured Core Disease
Myocoz
Cmyp8
Mscd
Myopathy, Congenital with Structured Cores and Z-Line Abnormalitie
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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8,也称为先天性肌病,具有结构核心和Z线异常,与先天性肌病和肌病有关。与先天性肌病8有关的重要基因是ACTN2(肌动蛋白α2)。在该疾病的背景下提到了药物吡格列酮和降糖药。附属组织包括骨骼肌和心脏,相关表型为1型肌纤维占优势和肌肉纤维直径的增加。
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
4
1

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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