Guidelines for genetic testing of muscle and neuromuscular junction disorders.

Volume: 64, Issue: 3, Pages: 255 - 269
Published: Jun 16, 2021
Abstract
Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies,...
Paper Details
Title
Guidelines for genetic testing of muscle and neuromuscular junction disorders.
Published Date
Jun 16, 2021
Volume
64
Issue
3
Pages
255 - 269
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