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

Alias:

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

Related ID：

MALACARDS：CHR656

OMIM：607734

MESH：D002607