Term Name:	Thomsen disease
Synonyms:
Definition:	A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
Ontology:	Human Disease [DOID:0081336]   ( DOID:0081336 )