| Metadata | |
|---|---|
| ID | DOID:0081336 |
| Name | Thomsen 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. https://pubmed.ncbi.nlm.nih.gov/11840191/ |
| Xrefs | |
| Synonyms |
Congenital myotonia, autosomal dominant form [EXACT] Thomsen's disease [EXACT] |
| Parent Relationships |
is_a myotonia congenita |