Charcot-Marie-Tooth Disease, Dominant Intermediate B (CMTDIB)

Alias:

Charcot-Marie-Tooth Disease Dominant Intermediate B

Cmtdib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Di-Cmtb

Cmtdi1

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

Cmt2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

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

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

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Axonal Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Disease, Axonal, 2m

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Dominant Intermediate B, also known as charcot-marie-tooth disease dominant intermediate b, is related to distal hereditary motor neuronopathy type 2b and charcot-marie-tooth disease, axonal, type 2n. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate B is DNM2 (Dynamin 2), and among its related pathways/superpathways are Vesicle-mediated transport and Glycerophospholipid biosynthesis. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are segmental peripheral demyelination and distal muscle weakness

Related ID：

MALACARDS：CHR422

OMIM：606482

MESH：C564703