Congenital myopathies associated with RYR1 form a continuous spectrum of pathological features that span central core disease, congenital fibre type disproportion, multiminicore disease, and congenital myopathies with prominent nuclear internalisation and large areas of myofibrillar disorganisation initially diagnosed as centronuclear myopathy [18]. The gene discussed is RYR1; the disease is congenital myopathy with cores.