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MIRAGE
autosomal dominant distal hereditary motor neuronopathy 2
Summary
- Synonym
-
- HMN II
- HMN IIA
- HMN2
- HMN2A
- autosomal dominant adult spinal muscular atrophy IIA
- distal hereditary motor neuronopathy type 2
- distal hereditary motor neuronopathy type 2A
- distal hereditary motor neuropathy type II
- distal hereditary motor neuropathy type IIA
- spinal Charcot-Marie-Tooth disease IIA
- Definition
- An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111206
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UJY1 | Heat shock protein beta-8 |
