Charcot-Marie-Tooth Disease, Axonal, Type 2n (CMT2N)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2n

Cmt2n

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n

Charcot-Marie-Tooth Neuropathy Axonal Type 2n

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n

Charcot-Marie-Tooth Disease, Axonal, 2n

Charcot-Marie-Tooth Disease, Type 2n

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2n, also known as charcot-marie-tooth disease axonal type 2n, is related to peripheral nervous system disease and neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2n is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are distal muscle weakness and distal sensory impairment

Related ID：

MALACARDS：CHR351

OMIM：613287

MESH：D002607