Abstract
Conditions related to mutations in the gene encoding ryanodine receptor 1 (RyR1) are among the most common non-dystrophic genetic muscle disorders, and encompass Malignant Hyperthermia aswell as Central Core Disease. Even though, we now know that these two conditions are highly related to RyR1 malfunction and subsequent calcium transient maladaptation within muscle fibres, the exact mechanisms underlying muscle dysfunction are likely to be more complex and may include a remodeling of other major contractile proteins with molecular and cellular functional consequences.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
