OBO ID: DOID:0111538 |
Term Name: | paramyotonia congenita of Von Eulenburg | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111538 ) |
OTHER paramyotonia congenita of Von Eulenburg PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.