A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.

@article{Vladutiu2000AVM,
  title={A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.},
  author={Georgirene D. Vladutiu and Michael J. Bennett and David S Smail and L. J. C. Wong and Robert T. Taggart and Herbert B. Lindsley},
  journal={Molecular genetics and metabolism},
  year={2000},
  volume={70 2},
  pages={134-41}
}
Adult-onset carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disease characterized by muscle pain and stiffness with rhabdomyolysis and myoglobinuria in severe cases. Exercise, fasting, viral infection, anesthesia, or extremes in temperature may trigger symptoms. A 54-year-old woman exhibited a 35-year history of progressive weakness and myopathic symptoms. CPT II activity in the patient's lymphoblasts, cultured skin fibroblasts, and skeletal muscle was reduced to… CONTINUE READING
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