Term Name: | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 |
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Synonyms: | |
Definition: | A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12. |
Ontology: | Human Disease [DOID:0061183] ( DOID:0061183 ) |