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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
Myopathy, Mitochondrial, and Ataxia (MMYAT)
Alias:
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Mmyat
Mitochondrial Myopathy-Cerebellar Atrophy-Pigmentary Retinopathy Syndrome
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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
肌病、线粒体和共济失调,也被称为线粒体肌病-小脑共济失调-色素性视网膜病变综合征。与肌病、线粒体和共济失调有关的重要基因是MSTO1(Misato线粒体分布和形态调节因子1)。相关组织包括大脑和骨骼,相关表型包括脊柱侧弯和抑郁。
Related ID:
MALACARDS:MYP149
OMIM:617675
MESH:D009468
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
3
8
MYP149
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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