| Metadata | |
|---|---|
| ID | DOID:0081335 |
| Name | Becker disease |
| 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/ |
| Xrefs | |
| Parent Relationships |
is_a myotonia congenita |