Charcot-Marie-Tooth Disease, Axonal, Type 2l (CMT2L)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2l

Cmt2l

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

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

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

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

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

Charcot-Marie-Tooth Neuropathy Axonal Type 2l

Charcot-Marie-Tooth Disease Neuronal Type 2l

Charcot-Marie-Tooth Disease, Axonal, 2l

Charcot-Marie-Tooth Neuropathy Type 2l

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease, Type 2l

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2l, also known as charcot-marie-tooth disease axonal type 2l, is related to sensory peripheral neuropathy and hereditary sensory neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2l is HSPB8 (Heat Shock Protein Family B (Small) Member 8), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include peripheral nerve, and related phenotypes are decreased amplitude of sensory action potentials and decreased number of large peripheral myelinated nerve fibers

Related ID：

MALACARDS：CHR353

OMIM：608673

MESH：D002607