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GTR Home > Conditions/Phenotypes > Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis

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

Summary

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MMCKR) is an autosomal recessive disorder of skeletal muscle 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. The features remit with rest, but some individuals develop mild proximal or distal muscle weakness. Rare affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. Laboratory studies show increased baseline serum creatine kinase levels with episodic spikes that may coincide with rhabdomyolysis. EMG shows myopathic changes, and muscle biopsy shows nonspecific myopathic or degenerative features (Lopes Abath Neto et al., 2021; Salzer-Sheelo et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C6orf142, CIP, MMCKR, MLIP
    Summary: muscular LMNA interacting protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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