Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

@article{Treves2008CongenitalMD,
  title={Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.},
  author={Susan Treves and Heinz Jungbluth and Francesco Muntoni and Francesco Zorzato},
  journal={Current opinion in pharmacology},
  year={2008},
  volume={8 3},
  pages={319-26}
}
Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320) and centronuclear myopathy (CNM). Experimental data have shown that RYR1 mutations result mainly in four types of channel defects: one class of… CONTINUE READING

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