Educational Series – Next-Generation Sequencing in Neuromuscular Disorders

This review focuses on the current status of NGS technology, its application in the diagnosis of NMDs, especially Pompe disease, and projected future developments.

Independent Commentary has been provided by Professor Merrilee Needham is the current Foundation Chair of Neurology at Murdoch University, Notre Dame University and Fiona Stanley Hospital In Perth, Western Australia. 

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