Though recessively inherited RYR1-related myopathies have been associated with certain histopathological subtypes such as minicore, centronuclear and congenital fibre-type disproportion myopathies, RYR1 mutations may be associated with other histological subtypes or only nonspecific myopathic features [27]. The gene discussed is RYR1; the disease is congenital fiber-type disproportion myopathy.