Charcot-Marie-Tooth Disease, Axonal, Type 2j (CMT2J)

Alias:
Charcot-Marie-Tooth Disease, Type 2j
Charcot-Marie-Tooth Disease Type 2j
Cmt2j
Charcot-Marie-Tooth Disease Type 2 with Hearing Loss and Pupillary Abnormalities
Charcot-Marie-Tooth Neuropathy Type 2j
Charcot-Marie-Tooth Disease, Type 2, with Hearing Loss and Pupillary Abnormalities
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Neuronal Type 2j
Charcot-Marie-Tooth Disease Axonal Type 2j
Charcot-Marie-Tooth Neuropathy, Type 2j
Charcot-Marie-Tooth Disease, Axonal, 2j
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2j, also known as charcot-marie-tooth disease, type 2j, is related to hereditary sensory neuropathy and polyneuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2j is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and EGR2 and SOX10-mediated initiation of Schwann cell myelination. Affiliated tissues include peripheral nerve, and related phenotypes are recurrent coughing spasms and dysphagia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
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9
58
9

Medical Symptom

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Description
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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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