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Gamstorp-Wohlfart syndrome
Summary
- Synonym
-
- autosomal recessive neuromyotonia and axonal neuropathy
- myokymia, myotonia and muscle wasting
- Definition
- A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0050526
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | |
| P22303 | Acetylcholinesterase | |
| Q02246 | Contactin-2 |
