Mitochondrial Complex I Deficiency, Nuclear Type 36 (MC1DN36)

Alias:
Mitochondrial Complex 1 Deficiency, Nuclear Type 36
Mc1dn36
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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36,也称为线粒体复合体I缺陷,核型36,与线粒体疾病有关。与线粒体复合体I缺陷,核型36有关的重要基因是NDUFC2(NADH:泛醌氧化还原酶亚基C2)。相关组织包括眼睛和肝脏,相关表型为全球发育延迟和增加的血清乳酸。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
4
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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