Charcot-Marie-Tooth disease type X

Summary
Definition
A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
Super Class
Charcot-Marie-Tooth disease
External Links
Disease Ontology
DOID:0050542
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P60891 Ribose-phosphate pyrophosphokinase 1

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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