Human genes for paramyotonia congenita of Von Eulenburg
Paramyotonia congenita of Von Eulenburg [DOID:0111538]
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 SCN4A on chromosome 17q23.3.
Synonyms: paramyotonia congenita of Von Eulenburg, DOID:0111538, paramyotonia congenita of Von Eulenburgs, Eulenburg disease, myotonia congenita intermittens ...