Thomsen disease

Term ID

DOID:0081336

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. https://pubmed.ncbi.nlm.nih.gov/11840191/

References

• MIM:160800

Ontology

Human Disease   ( DOID:0081336 )