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Charcot-Marie-Tooth disease type 2E
Summary
- Synonym
-
- CMT2E
- Charcot-Marie-Tooth neuropathy type 2E
- autosomal dominant Charcot-Marie-Tooth disease type 2E
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110165
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07196 | Neurofilament light polypeptide |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08551 | Neurofilament light polypeptide |
