Charcot-Marie-Tooth Disease Type 2a2b

Alias:

Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency

Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type

Seoan Due to Mfn2 Deficiency

Ar-Cmt2, Ouvrier Type

Charcot-Marie-Tooth Disease, Axonal, Type 2a2b

Cmt2a2b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease Type 2a2b, also known as severe early-onset axonal neuropathy due to mfn2 deficiency, is related to charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b and distal hereditary motor neuronopathy type 2b. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2b is MFN2 (Mitofusin 2), and among its related pathways/superpathways are Mitophagy and Intracellular trafficking proteins involved in CMT neuropathy. Related phenotypes are nervous system and mortality/aging

Related ID：

MALACARDS：CHR700