Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia-Reference-Cited by-同舟云学术

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Published:2017-05-30 Issue:2 Volume:4 Page:147-158
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Parker Remai¹,Schiemann Anja H.¹,Langton Elaine²,Bulger Terasa³,Pollock Neil³,Bjorksten Andrew⁴,Gillies Robyn⁴,Hutchinson David⁵,Roxburgh Richard⁵,Stowell Kathryn M.¹

Affiliation:

1. Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand

2. Wellington Hospital, Wellington, New Zealand

3. Department of Anaesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand

4. Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne

5. Department of Neurology, Auckland City Hospital, Auckland, New Zealand

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

Reference48 articles.

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2. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor;Monnier;Hum Mol Genet,2000

3. Central core disease;Jungbluth;Orphanet Journal of Rare Diseases,2007

4. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms;Duarte;Muscle & Nerve,2011

5. Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?;Kossugue;Muscle & Nerve,2007

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