Articles with "recessive ryr1" as a keyword



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Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

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Published in 2022 at "eLife"

DOI: 10.7554/elife.73718

Abstract: To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or… read more here.

Keywords: ryr1 mutations; muscle; mouse model; muscle strength ... See more keywords