Metadata | |
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ID | DOID:0061183 |
Name | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 |
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/ |
Xrefs | |
Parent Relationships |
is_a muscular disease |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |