Charcot-Marie-Tooth disease type 4

Summary
Synonym
  • hereditary motor and sensory neuropathy
Definition
A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
Super Class
Charcot-Marie-Tooth disease
External Links
Disease Ontology
DOID:0050541
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 1
8898 MTMR2 myotubularin related protein 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024