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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
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中文
罕见病
Miyoshi Muscular Dystrophy
Alias:
Distal Myopathy
Distal Muscular Dystrophy
Distal Muscular Dystrophies
Distal Myopathies
Miyoshi Myopathy
Dystrophy, Muscular, Miyoshi
Myopathy, Distal
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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
宫崎肌营养不良症,又称远端肌病,与宫崎肌营养不良症3和远端肌病1有关。与宫崎肌营养不良症有关的重要基因是DYSF(肌营养不良蛋白),其相关通路/超级通路包括心脏传导和带状肌收缩通路。在该疾病的背景下提到了Deflazacort和Glucosamine这两种药物。相关组织包括骨骼肌和心脏,相关表型为存活率降低和减少乳腺囊泡形成。
Related ID:
MALACARDS:MYS079
MESH:C537480
ICD11:596283352
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
全年龄段
1-9/1000000
32
338
3
MYS079
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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