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myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (DOID:0061183)
Alliance: disease page
Alt IDs: OMIM:620138
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/07/2025
MGI 6.24
The Jackson Laboratory