Log In|Sign Up
中文Mitochondrial Myopathy, Infantile, Transient (MMIT)
Alias:
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency
Mitochondrial Myopathy, Infantile, Transient, Due to Respiratory Chain Deficiency
Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy
Mitochondrial Myopathy with Reversible Complex Iv Deficiency
Mitochondrial Myopathy with Reversible Cox Deficiency
Reversible Infantile Cytochrome C Oxidase Deficiency
Respiratory Chain Deficiency, Infantile, Transient
Reversible Infantile Respiratory Chain Deficiency
Cox Deficiency Myopathy, Infantile, Transient
Benign Cox Deficiency
Mmit
Favorite
线粒体肌病，婴儿期暂时性，也称为可逆性细胞色素氧化酶缺陷性线粒体肌病，与trmu缺乏和暂时性婴儿肝衰竭有关，症状包括面部麻痹和无力。与线粒体肌病，婴儿期暂时性相关的基因是MT-TE（线粒体编码的TRNA-Glu（GAA/G）），其相关通路/超级通路包括代谢和呼吸电子传递，化学耦合ATP合成和热能通过解耦联蛋白产生。相关组织包括肝脏和骨骼肌，相关表型为肌肉无力和肌病。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
