Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Volume: 19, Issue: 6, Pages: 522 - 532
Published: Jun 1, 2020
Abstract
Advances in DNA sequencing technologies have resulted in a near doubling, in under 10 years, of the number of causal genes identified for inherited neuromuscular disorders. However, around half of patients, whether children or adults, do not receive a molecular diagnosis after initial diagnostic workup. Massively parallel technologies targeting RNA, proteins, and metabolites are being increasingly used to diagnose these unsolved cases. The use...
Paper Details
Title
Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development
Published Date
Jun 1, 2020
Volume
19
Issue
6
Pages
522 - 532
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