Search Ontology:
Human Disease

Becker disease

Term ID
DOID:0081335
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 homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. https://pubmed.ncbi.nlm.nih.gov/8301644/
References
Ontology
Human Disease   ( DOID:0081335 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models