Charcot-Marie-Tooth Disease, Type 4b1 (CMT4B1)

Alias:

Charcot-Marie-Tooth Disease Type 4b1

Cmt4b1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Charcot-Marie-Tooth Disease 4b1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Type 4b1, also known as charcot-marie-tooth disease type 4b1, is related to hereditary sensory neuropathy and myopathy, and has symptoms including facial paresis An important gene associated with Charcot-Marie-Tooth Disease, Type 4b1 is MTMR2 (Myotubularin Related Protein 2), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include peripheral nerve, and related phenotypes are distal amyotrophy and scoliosis

Related ID：

MALACARDS：CHR521

OMIM：601382

MESH：C535420