Box 1 Disease areas involved

 < Diseases covered at the start of the project> 

 Myotonic dystrophy

 Skeletal muscle channelopathies (non-dystrophic myotonias)

 Hereditary angioedema

 MECP2 duplication syndrome

 Huntington’s disease

 Spinocerebellar degeneration

 Tuberous sclerosis

 Marfan’s syndrome

 <Diseases added to the list during the study> 

 Epidermolysis bullosa

 Retinitis pigmentosa