RYR1 and autosomal dominant centronuclear myopathy: Classical centronuclear myopathies in humans have been associated with dominant mutations in the large GTPase DNM2 gene [4] while recessive cases may be due to mutations of amphiphysin 2, encoded by BIN1 [5], and of the ryanodine receptor (RyR1) gene, RYR1 [6].