Charcot-Marie-Tooth Disease, Axonal, Type 2k (CMT2K)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2k

Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k

Autosomal Recessive Axonal Cmt4c4

Arcmt2k

Cmt2k

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k

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

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k

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

Charcot-Marie-Tooth Neuropathy Axonal Type 2k

Charcot-Marie-Tooth Disease Neuronal Type 2k

Charcot-Marie-Tooth Disease, Axonal, 2k

Charcot-Marie-Tooth Neuropathy Type 2k

Charcot-Marie-Tooth Disease, Type 2k

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2k, also known as charcot-marie-tooth disease axonal type 2k, is related to neuropathy, congenital hypomyelinating, 1, autosomal recessive and charcot-marie-tooth disease, type 4a. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2k is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways is Regulation of CFTR activity (norm and CF). Affiliated tissues include skeletal muscle and skin, and related phenotypes are skeletal muscle atrophy and proximal muscle weakness in lower limbs

Related ID：

MALACARDS：CHR350

OMIM：607831

MESH：D002607