Mitochondrial Complex I Deficiency, Nuclear Type 29 (MC1DN29)

Alias:
Mc1dn29
Mitochondrial Complex 1 Deficiency, Nuclear Type 29
Nuclear Type Mitochondrial Complex I Deficiency 29
Mi Complex I Deficiency, Nuclear Type 29
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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
线粒体复合体I缺陷,核型29,也称为mc1dn29。与线粒体复合体I缺陷,核型29有关的重要基因是TMEM126B(跨膜蛋白126B)。相关组织包括肝脏和心脏,相关表型为血清乳酸增加和线粒体复合体I活性降低。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
6

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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