Term Name: Becker disease
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 )

Relationships
is a type of: autosomal recessive disease myotonia congenita