Muscular dystrophies are a heterogeneous group of rare genetic disorders that are characterised by progressive skeletal muscle wasting and weakness, and can directly precipitate premature mortality. Since up to 80% of these diseases have an underlying genetic cause, traditional clinical methodologies are currently inadequate. Accordingly, we describe here the conclusion of the first phase of the MYO-SEQ project, an international research collaboration that applied targeted whole exome sequencing (WES) to the largest ever cohort of patients with undiagnosed proximal muscle weakness.

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