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Published on: May 7, 2020
A practical approach to molecular diagnostic testing in neuromuscular diseases
W David Arnold1, Kevin M Flanigan
1Division of Neuromuscular Disorders, Department of Neurology, Wexner Medical Center at the Ohio State University, The Ohio State University, 395 W. 12th Avenue, 7th Floor, Columbus, OH 43210, USA. William.Arnold@osumc.edu
Abstract:
Molecular diagnosis is an important aspect in the care of patients with neuromuscular disorders. Because of the rapidly evolving nature of the field, the approach to obtaining a molecular diagnosis may be challenging. This article provides a general approach to molecular diagnostic testing while reviewing the principles of genetics and genetic disorders and the indications and limitations of testing methods in common hereditary neuromuscular disorders.

