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Items: 5

1.

Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.

Groom L, Muldoon SM, Tang ZZ, Brandom BW, Bayarsaikhan M, Bina S, Lee HS, Qiu X, Sambuughin N, Dirksen RT.

Anesthesiology. 2011 Nov;115(5):938-45. doi: 10.1097/ALN.0b013e3182320068.

2.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.

PMID:
10790202
3.

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

Treves S, Jungbluth H, Muntoni F, Zorzato F.

Curr Opin Pharmacol. 2008 Jun;8(3):319-26. doi: 10.1016/j.coph.2008.01.005. Review.

PMID:
18313359
5.

[Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].

Lunardi J, Monnier N.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S70-7. Review. French.

PMID:
15269663

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