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MIRAGE
autosomal dominant distal hereditary motor neuronopathy 7
Summary
- Synonym
-
- DHMN7A
- DHMNVPy
- HMN VIIA
- HMN7A
- Harper-Young myopath
- dHMN7
- distal hereditary motor neuronopathy type 7
- distal hereditary motor neuropathy type VIIA
- distal spinal muscular atrophy with vocal cord paralysis
- distal spinal muscular atrophy with vocal cord paralysis type 7A
- Definition
- An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111199
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZV3 | High affinity choline transporter 1 |
