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Thomsen disease
Summary
- Synonym
-
- Congenital myotonia, autosomal dominant form
- Thomsen's disease
- 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.
- Super Class
- autosomal dominant disease myotonia congenita
External Links
- Disease Ontology
- DOID:0081336
- Mondo Disease Ontology
- OMIM
