Term Name: | paramyotonia congenita of Von Eulenburg |
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Synonyms: | Eulenburg disease, myotonia congenita intermittens, paralysis periodica paramyotonica, paramyotonia congenita, PMC, Von Eulenburg 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. |
Ontology: | Human Disease [DOID:0111538] ( DOID:0111538 ) |