Term Name: paramyotonia congenita of Von Eulenburg
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 )

Relationships
is a type of: autosomal dominant disease neuromuscular disease