We’re delighted to add our latest Educational Series on next-generation sequencing in neuromuscular disorders.
The review summarises the place of next-generation sequencing (NGS) in the diagnosis of neuromuscular disorders. In particular, the benefits of NGS in the diagnosis of Pompe disease, and the Medical Benefit Scheme listings for the use of genetic testing in neuromuscular diseases. It also includes guiding commentary from Dr Roula Ghaoui, adult neurologist at the Royal Adelaide Hospital.
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