Charcot-Marie-Tooth Disease, Axonal, Type 2cc (CMT2CC)

Alias:
Charcot-Marie-Tooth Disease Axonal Type 2cc
Cmt2cc
Charcot-Marie-Tooth Neuropathy, Type 2cc
Charcot-Marie-Tooth Disease, Axonal, 2cc
Charcot-Marie-Tooth Neuropathy Type 2cc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2cc, also known as charcot-marie-tooth disease axonal type 2cc, is related to charcot-marie-tooth disease intermediate type and neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2cc is NEFH (Neurofilament Heavy Chain), and among its related pathways/superpathways are Neuroscience and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include peripheral nerve, and related phenotypes are proximal muscle weakness and babinski sign
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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