The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations-Reference-Cited by-同舟云学术

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Published:2019-02-20 Issue:4 Volume:266 Page:876-887
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Knuiman G. J.,Küsters B.,Eshuis L.,Snoeck M.,Lammens M.,Heytens L.,De Ridder W.,Baets J.,Scalco R. S.,Quinlivan R.,Holton J.,Bodi I.,Wraige E.,Radunovic A.,von Landenberg C.,Reimann J.,Kamsteeg E.-J.,Sewry C.,Jungbluth H.,Voermans N. C.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/article/10.1007/s00415-019-09209-z/fulltext.html

Reference63 articles.

1. Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C et al (2018) Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction. Nat Rev Neurol

2. Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C et al (2005) Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 65(12):1930–1935

3. Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W et al (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68(5):717–726

4. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ et al (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31(7):E1544–E1550

5. Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G et al (2013) Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord 23(7):540–548

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