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The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia.
Otsu K, Nishida K, Kimura Y, Kuzuya T, Hori M, Kamada T, Tada M. Otsu K, et al. J Biol Chem. 1994 Apr 1;269(13):9413-5. J Biol Chem. 1994. PMID: 7511586 Free article.
Molecular genetic studies have shown that the alteration of Arg615 to Cys in the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor) is cosegregated with porcine MH (Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., …
Molecular genetic studies have shown that the alteration of Arg615 to Cys in the Ca2+ release channel of skeletal muscle sarcoplasmic reticu …
333 results