Motor Function Performance in Individuals with RYR1-Related Myopathies

Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG.
Muscle Nerve. 2019. 60(1),80-87.
Natural history study of 34 individuals with RYR1- related myopathy (RYR1-RM) during 6 months.
Motor deficits according to MFM-32 were primarily observed in the MFM-D1 (D1 mean = 71%) at baseline. RYR1-RM remained stable over 6 months.

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Keywords : RYR1, GFT, MFM, Disease progression, Motor function

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