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malignant hyperthermia

 

Etiology

-  Locus MHS1 at 19q13.1: mutation in the RYR1 gene coding for ryanodine receptor (MIM.180901)
-  Locus MHS2 at 17q11.2-q24
-  Locus MHS3 at 7q21-q22
-  Locus MHS4 at 3q13.1
-  Locus MHS5 at 1q32:
-  Locus MHS6 at 5p: mutation in the CACNA1S gene

References

-  Nelson TE. Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins. Curr Mol Med. 2002 Jun;2(4):347-69. PMID: #12108947#



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