G.P.1.05 RYR1 is a common cause of congenital fibre type disproportion with ptosis, ophthalmoplegia, scoliosis and pronounced axial muscle weakness

Congenital fibre type disproportion (CFTD) is a form of congenital myopathy in which consistent type 1 fibre hypotrophy, relative to type 2 fibres, is the main histological abnormality. We hypothesised that RYR1 was a good candidate for CFTD since type 1 fibre hypotrophy is a common secondary finding in recessive core myopathies due to mutations in RYR1.