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myotonia congenita, autosomal recessive
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Mondo Description Autosomal recessive form of myotonia congenita.
Uniprot Description A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:255700
UMLS:C0751360
MONDO:0009715
High level summary of knowledge for a disease, including descriptions and datasource references.