Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy-Reference-Cited by-同舟云学术

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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Published:2015-07 Issue:7 Volume:25 Page:567-576
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kraeva N.,Heytens L.^ORCID,Jungbluth H.,Treves S.,Voermans N.,Kamsteeg E.,Ceuterick-de Groote C.,Baets J.,Riazi S.

Funder

University of Toronto

University of Antwerp

Association Belge contre les Maladies Neuro-Musculaires

NEUROMICS

National Swiss Science Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference47 articles.

1. Malignant hyperthermia: aetiology unknown;Britt;Can Anaesth Soc J,1970

2. Malignant hyperthermia;Rosenberg;Orphanet J Rare Dis,2007

3. Malignant hyperthermia;MacLennan;Science,1992

4. Mutations in RYR1 in malignant hyperthermia and central core disease;Robinson;Hum Mutat,2006

5. Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference;Riazi;Can J Anaesth,2014

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2. One case of congenital myopathy caused by new mutation of RYR1 gene and literature review;Gene;2023-08

3. Malignant Hyperthermia in Belgium: 35 years of practice-led research;Acta Anaesthesiologica Belgica;2023-03

4. Inherited myopathy plus: Double-trouble from rare neuromuscular disorders;Neuromuscular Disorders;2023-02

5. Management of patients susceptible to malignant hyperthermia: A surgeon's perspective;International Journal of Pediatric Otorhinolaryngology;2022-08

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