Combined Oxidative Phosphorylation Deficiency 10 (COXPD10)

Alias:

Mitochondrial Hypertrophic Cardiomyopathy with Lactic Acidosis Due to Mto1 Deficiency

Coxpd10

Cardiomyopathy, Infantile Hypertrophic Mitochondrial, and Lactic Acidosis

Infantile Hypertrophic Mitochondrial Cardiomyopathy and Lactic Acidosis

Cardiomyopathy Infantile Hypertrophic Mitochondrial and Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 10

Combined Oxidative Phosphorylation Defect Type 10

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 10, also known as mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency, is related to queensland tick typhus and myopathy, lactic acidosis, and sideroblastic anemia 2. An important gene associated with Combined Oxidative Phosphorylation Deficiency 10 is MTO1 (Mitochondrial TRNA Translation Optimization 1), and among its related pathways/superpathways are tRNA processing and tRNA-uridine 2-thiolation (mammalian mitochondria). Affiliated tissues include brain, and related phenotypes are seizure and spasticity

Related ID：

MALACARDS：CMB025

OMIM：614702

MESH：D028361