Combined Oxidative Phosphorylation Deficiency 48 (COXPD48)

Combined Oxidative Phosphorylation Deficiency 48(来自ICD-11)

别称:

Coxpd48

Combined Oxidative Phosphorylation Deficiency, Type 48

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 48, is also known as coxpd48. An important gene associated with Combined Oxidative Phosphorylation Deficiency 48 is NSUN3 (NOP2/Sun RNA Methyltransferase 3). Affiliated tissues include skeletal muscle and brain, and related phenotypes are seizure and failure to thrive

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