Charcot-Marie-Tooth Disease (CMT)

Alias:
Pma
Charcot-Marie-Tooth Hereditary Neuropathy
Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathy
Cmt - Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy
Hmsn
Cmt
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, also known as pma, is related to charcot-marie-tooth disease, axonal, type 2e and neuropathy, congenital hypomyelinating, 1, autosomal recessive, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Disease is MFN2 (Mitofusin 2), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, spinal cord and brain, and related phenotypes are nervous system and muscle
Related ID:
MESH:D002607

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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228
1949
26

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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