myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

Term ID

DOID:0061183

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. https://pubmed.ncbi.nlm.nih.gov/34935254/

References

• MIM:620138

Ontology

Human Disease   ( DOID:0061183 )