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Human Disease

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
Ontology
Human Disease   ( DOID:0081336 )
Relationships
is a type of
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Genes Involved
Zebrafish Models