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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
Mitochondrial Myopathy, Lethal, Infantile (LIMM)
Alias:
Lethal Infantile Mitochondrial Myopathy
Limm
Myopathy, Mitochondrial, Lethal, Infantile
Lethal Infantile Mitochondrial Disease
Limd
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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
线粒体肌病,致命性婴儿型,也称为致命性婴儿型线粒体肌病,与辅酶缺乏、良性婴儿型线粒体肌病和线粒体疾病有关。与线粒体肌病,致命性婴儿型相关的基因是MT-TT(线粒体编码的精氨酸转运RNA(ACN))。相关组织包括肝脏和肺部,相关表型为肾功能不全和进行性外眼肌麻痹。
Related ID:
MALACARDS:MTC115
OMIM:551000
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
线粒体
新生儿
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3
MTC115
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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