Features of centronuclear myopathy associated with the skeletal muscle ryanodine receptor (RYR1) gene have to date only been reported in one single case with a de novo dominant mutation resulting in a serine to leucine substitution at position 4112 [82]; the RYR1 gene had been considered as a candidate in this patient because of the frequent observation of multiple central nuclei in other RYR1-related phenotypes and the suggestion of a clinical continuum and overlap of radiological features on muscle MRI. Here, RYR1 is linked to centronuclear myopathy.