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paramyotonia congenita of Von Eulenburg
Summary
- Synonym
-
- Eulenburg disease
- PMC
- Von Eulenburg paramyotonia congenita
- myotonia congenita intermittens
- paralysis periodica paramyotonica
- paramyotonia congenita
- Definition
- A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
- Super Class
- autosomal dominant disease neuromuscular disease
External Links
- Disease Ontology
- DOID:0111538
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
