| Metadata | |
|---|---|
| ID | DOID:0061184 |
| Name | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/36799992/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a muscular disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |