OBO ID: DOID:2106
Term Name: myotonia congenita Search Ontology:
Synonyms:
  • Congenital myotonia, autosomal dominant form
  • Thomsen disease
  • Thomsen's disease
Definition: A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. (2)
References:
Ontology: Human Disease   (DOID:2106)
OTHER myotonia congenita PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLCN1 Myotonia congenita, dominant 160800
Myotonia congenita, recessive 255700
PHENOTYPE No data available

CITATIONS (1)