A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families-Reference-Cited by-同舟云学术

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families

Published:2009-07-30 Issue:4 Volume:40 Page:633-639
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Carpenter Danielle,Ismail Azzam,Robinson Rachel L.,Ringrose Christopher,Booms Patrick,Iles David E.,Halsall P. Jane,Steele Derek,Shaw Marie-Anne,Hopkins Philip M.

Funder

Department of Health Pharmacogenetics Research Grant Programme

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.21397/fullpdf

Reference12 articles.

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

2. Congential muscle disorders with cores: the ryanodine receptor calcium channel paradigm;Treves;Curr Opin Pharm,2008

3. Functional effects of mutations identified in patients with multiminicore disease;Zorzato;IUBMB Life,2007

4. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers;Curran;Br J Anaesth,1999

5. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies;Zhou;Brain,2007

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel RYR1 variant in an infant with a unique fetal presentation of central core disease;American Journal of Medical Genetics Part A;2023-03-25

2. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations;Journal of Neurology;2019-02-20

3. Genetic epidemiology of malignant hyperthermia in the UK;British Journal of Anaesthesia;2018-10

4. Malignant Hyperthermia in the Post-Genomics Era;Anesthesiology;2018-01-01

5. Ryanodine Receptor Channelopathies in Skeletal and Cardiac Muscle;Ion Channels in Health and Disease;2016