Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
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
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
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:
MALACARDS:CNG653
OMIM:618654
MESH:D009135
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
1
4
1
CNG653
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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!
微信
信息比对
科研助手
使用教程
回到顶部