Neuromuscular disorders genetics: what is the best that we can do?


Massively parallel sequencing (MPS) has massively improved neuromuscular disorder genetics, both through gene discovery and diagnostics. In 1987, only one neuromuscular disease gene, DMD, could be analysed to provide accurate molecular diagnosis for only two diseases: Duchenne and Becker muscular dystrophy. The number of known genes increased until there were too many to analyse cost-effectively by Sanger sequencing. However, MPS diagnostics meant hundreds of genes could be analysed simultaneously and hundreds of diseases diagnosed.


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