Charcot-Marie-Tooth Disease, Dominant Intermediate C (CMTDIC)

Charcot-Marie-Tooth Disease, Dominant Intermediate C(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Dominant Intermediate C

Cmtdic

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C

Di-Cmtc

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C

Charcot-Marie-Tooth Neuropathy Dominant Intermediate C

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Dominant Intermediate C, also known as charcot-marie-tooth disease dominant intermediate c, is related to myopathy, lactic acidosis, and sideroblastic anemia 2 and charcot-marie-tooth hereditary neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate C is YARS1 (Tyrosyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include peripheral nerve, and related phenotypes are areflexia and decreased motor nerve conduction velocity

查看原文参与反馈