Term Name: | Becker disease |
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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. |
Ontology: | Human Disease [DOID:0081335] ( DOID:0081335 ) |