Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.
Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.
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DOI：
10.1007/s12630-014-0227-5
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发表时间：
2014-11
影响因子：
4.2
通讯作者：
Rosenberg, Henry
中科院分区：
文献类型：
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作者：
Riazi, Sheila;Kraeva, Natalia;Muldoon, Sheila M;Dowling, James;Ho, Clara;Petre, Maria-Alexandra;Parness, Jerome;Dirksen, Robert T;Rosenberg, Henry
美国恶性高热协会（MHAUS）和多伦多大学麻醉系于2013年11月1日至2日在加拿大多伦多主办了一次科学会议。多学科专家组，包括参与恶性高热（MH）相关研究的临床医生，遗传学家和生理学家，分享了对1型ryanodine受体基因（RYR1）相关疾病的病理生理学的新见解，以及MH与“清醒MH”条件之间的关系，如劳力性横纹肌溶解症（ER）和劳力性热病（EHI）。此外，MH的分子遗传学，以及与RYR1连锁疾病的诊断和管理相关的临床问题也被提出。会议还表彰了大卫H. MacLennan为我们理解MH和其他RYR1相关肌病的遗传学，发病机制和治疗做出了贡献。这份报告是这次会议的纪要。
The Malignant Hyperthermia Association of the United States (MHAUS) and the Department of Anesthesia at the University of Toronto sponsored a Scientific Conference on November 1–2, 2013 in Toronto, Canada. The multidisciplinary group of experts, including clinicians, geneticists and physiologists involved in research related to malignant hyperthermia (MH), shared new insights into the pathophysiology of type-1 ryanodine receptor gene (RYR1)-linked diseases, as well as the relationship between MH and “awake MH” conditions, such as exertional rhabdomyolysis (ER) and exertional heat illness (EHI). In addition, the molecular genetics of MH, and clinical issues related to the diagnosis and management of RYR1-linked disorders, were presented. The conference also honored Dr. David H. MacLennan for his contributions to our understanding of the genetics, pathogenesis and treatment of MH and other RYR1-related myopathies. This report represents a summary of the proceedings of this conference.