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Article

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

1 Feb 2018

Abstract excerpt

OBJECTIVE: To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs). METHODS: We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the patient's medical...

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PMID: 29417091
DOI: 10.1212/nxg.0000000000000212

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