In the last 5 years there have been a number of developments in the understanding of the different genetic causes of myotubular and centronuclear myopathy. New genetic causes have been identified, and there is also a greater understanding of some of the muscle and cellular defects caused by these genetic mutations, such as the effect on muscle excitation-contraction, and autophagy, the cell ‘recycling’ system. This paper by Dr Heinz Jungbluth and Prof Mathias Gautel provides an overview of our current understanding and describes promising lines of enquiry for more therapeutic strategies for myotubular and centronuclear myopathy. To effectively find a cure for everyone with this condition there will need to be many approaches and this work indicates that the lines of investigation and understanding are continuing apace.

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