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RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling
Download from discovery.ucl.ac.ukRecessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Download from www.nature.comMyopathic causes of exercise intolerance with rhabdomyolysis
Download from onlinelibrary.wiley.comGuidelines for the use and interpretation of assays for monitoring autophagy.
Download from www.tandfonline.comConsensus Statement on Standard of Care for Congenital Myopathies
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