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Metadata
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

MIM:620138

Parent Relationships

is_a muscular disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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