Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

@article{Galli2002MutationsIT,
  title={Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.},
  author={Lucia Galli and Alfredo Orrico and Santolo Cozzolino and Vladimiro Pietrini and Vincenzo Tegazzin and Vincenzo Sorrentino},
  journal={Cell calcium},
  year={2002},
  volume={32 3},
  pages={143-51}
}
Mutations in the ryanodine receptor type 1 (RYR1) gene are associated with Malignant Hyperthermia (MH) and Central Core Disease (CCD). We report here on the molecular analysis of the RYR1 gene in Italian families referred as potential cases of MH or in patients with CCD or multicore/minicore myopathy. Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS) patients, 4 of 34 individuals diagnosed as MH equivocal (MHE), and 2 were patients… CONTINUE READING
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