Extrapolating from these observations, we suggest that, in cases of FADS/LMPS, RYR1 mutation should be performed as part of a multigene diagnostic strategy (e.g. by second generation sequencing analysis) rather than being specifically targeted to cases with histopathological features that are considered characteristic of a RYR1-associated myopathy. The gene discussed is RYR1; the disease is fetal akinesia deformation sequence.