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Missense variants may affect catalytic function with only minor conformational changes or, substantially more frequently, lead to misfolding amenable to in vitro correction by chemical chaperones or the presence of cofactors [23,24,25,26, 31,32,33,34]

Since muscle loss has such a detrimental impact on a patient's prognosis and quality of life, developing effective treatment options to combat muscle wasting is a crucial goal of research (Furrer and Handschin, 2019, Sawicka et al., 2018)

Main et al., 2012)