Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing
Journal
Journal of neuromuscular diseases
Journal Volume
10
Journal Issue
4
Pages
667
Date Issued
2023
Author(s)
Chen, Pin-Shiuan
Huang, Hsin-Yi
Abstract
Whole-exome sequencing (WES) facilitates the diagnosis of hereditary neuromuscular disorders. To achieve an accurate diagnosis, physicians should interpret the genetic report carefully along with clinical information and examinations. We described our experience with (1) clinical validation in patients with variants found using WES and (2) a diagnostic approach for those with negative findings from WES.
Subjects
Whole-exome sequencing; motor neuron disease; myopathy; neuromuscular disorders; neuropathy
Type
journal article