Rippling Muscle Disease 2 (RMD2)

Alias:
Rippling Muscle Disease
Muscular Dystrophy, Limb-Girdle, Type 1c
Lgmd1c
Rmd2
Rmd
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
Dystrophy, Muscular, Limb-Girdle, Type 1c
Limb-Girdle Muscular Dystrophy 1c
Disease, Muscle, Rippling, Type 2
Rippling Muscle Disease 1
Rippling Muscle Syndrome
Lgmd1c, Formerly
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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
肌阵挛性肌病2,也称为肌阵挛性肌病,与远端型太田型肌病和肌病有关,症状包括运动性肌痛、肌肉痉挛和肌痛。与肌阵挛性肌病2有关的重要基因是CAV3(Caveolin 3),其相关通路/超级通路包括粘附连接的重塑和埃博拉病毒感染宿主。附属组织包括骨骼肌和心脏,相关表型为血清肌酸激酶浓度升高和高加索人征。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
孩童期
--
21
175
29

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!
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