Are you or a loved one affected by RYR1 myopathies? If so, your input would be most welcome on a protocol for a Cochrane Review looking at drug treatments for RYR1 myopathies.

Skills / interests: Consumer (public, patient, carer) input

RYR1-related diseases affect skeletal muscle and are caused by changes in the RYR1 gene. People with this rare disease have muscle weakness or poor muscle tone. RYR1-myopathy cannot be cured but it can be managed. This review is looking at any drug treatment targeting people with RYR1 mutations.


I am looking for someone who is willing to give feedback on a protocol on Drug treatments for RYR1 myopathies.

Ideal applicant

I am looking for a person who has RYR1 myopathy or is a carer for someone who has it.

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