Mitochondrial Myopathy, Infantile, Transient (MMIT)

Mitochondrial Myopathy, Infantile, Transient(来自ICD-11)

别称:

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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Myopathy, Infantile, Transient, also known as mitochondrial myopathy with reversible cytochrome c oxidase deficiency, is related to trmu deficiency and liver failure, infantile, transient, and has symptoms including facial paresis and weakness. An important gene associated with Mitochondrial Myopathy, Infantile, Transient is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver and skeletal muscle, and related phenotypes are muscle weakness and myopathy

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