Charcot-Marie-Tooth Disease, Demyelinating, Type 1f (CMT1F)

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 1f

Cmt1f

Charcot-Marie-Tooth Neuropathy Type 1f

Charcot-Marie-Tooth Disease, Type 1f

Severe Early-Onset Axonal Neuropathy Due to Light Neurofilament Subunit Deficiency

Severe Early-Onset Axonal Neuropathy Due to Nefl Deficiency

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5

Charcot-Marie-Tooth Disease Demyelinating Type 1f

Charcot-Marie-Tooth Disease, Demyelinating, 1f

Charcot-Marie-Tooth Neuropathy, Type 1f

Charcot-Marie-Tooth Disease Type 2b5

Charcot-Marie-Tooth Disease, Type if

Seoan Due to Nefl Deficiency

Ar-Cmt2b5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f, also known as charcot-marie-tooth disease type 1f, is related to charcot-marie-tooth disease, axonal, type 2e and radial neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1f is NEFL (Neurofilament Light Chain), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are skeletal muscle atrophy and decreased nerve conduction velocity

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