Term Name: | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
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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 ) |