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Charcot-Marie-Tooth disease X-linked dominant 6
Summary
- Synonym
-
- CMT6X
- CMTX6
- Charcot-Marie-Tooth neuropathy X-linked dominant 6
- X-linked Charcot-Marie-Tooth disease type 6
- Definition
- A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
- Super Class
- Charcot-Marie-Tooth disease type X X-linked dominant disease
External Links
- Disease Ontology
- DOID:0110207
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15120 | [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial |
