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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

Synonyms
MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 1

Summary

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis-1 (MMCKR1) is an autosomal recessive skeletal muscle disorder 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). Genetic Heterogeneity of Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis MMCKR2 (620971) is caused by mutation in the DTNA gene (601239) on chromosome 18q12. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

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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