Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons

Alias:
Autosomal Dominant Hereditary Motor and Sensory Neuropathy Type 2 with Giant Axons
Hmsn2 with Giant Axons
Cmt2 with Giant Axons
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons, also known as autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, is related to neuropathy, hereditary, with liability to pressure palsies and neuropathy, congenital hypomyelinating, 1, autosomal recessive. An important gene associated with Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons is DCAF8 (DDB1 And CUL4 Associated Factor 8).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
4
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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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