Charcot-Marie-Tooth Disease, Type 4b2 (CMT4B2)

Alias:

Charcot-Marie-Tooth Disease Type 4b2

Cmt4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Charcot-Marie-Tooth Disease, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Disease 4b2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Type 4b2, also known as charcot-marie-tooth disease type 4b2, is related to hereditary sensory neuropathy and demyelinating polyneuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Type 4b2 is SBF2 (SET Binding Factor 2), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include spinal cord and brain, and related phenotypes are distal lower limb muscle weakness and difficulty walking

Related ID：

MALACARDS：CHR519

OMIM：604563

MESH：C535421