Charcot-Marie-Tooth Disease, Type 4j (CMT4J)

Charcot-Marie-Tooth Disease, Type 4j(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 4j

Cmt4j

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Type 4j, also known as charcot-marie-tooth disease type 4j, is related to hereditary sensory neuropathy and chronic inflammatory demyelinating polyradiculoneuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Type 4j is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye and peripheral nerve, and related phenotypes are motor delay and gait disturbance

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