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

• OMIM:255300
• OMIM:255700

Ontology

Human Disease   ( DOID:0081335 )