RYR1 and distal myopathy: 2016). WES did not identify any other known pathogenic or presumed pathogenic variants in any gene so far known to cause distal myopathies, including ACTA1, recently recognized as causative of distal myopathy (Liewluck et al. 2017). The previously reported distal weakness in RYR1‐recessive myopathy was described only in the setting of early onset global weakness which was not our patient's main clinical feature (Ferreiro et al. 2002; Wilmshurst et al. 2010).