Term Name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Synonyms:
Definition: A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12.
Ontology: Human Disease [DOID:0061184]   ( DOID:0061184 )

Relationships
is a type of: autosomal dominant disease muscular disease