https://scholars.lib.ntu.edu.tw/handle/123456789/636447
Title: | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | Authors: | Chen, Pin-Shiuan CHI-CHAO CHAO LI-KAI TSAI Huang, Hsin-Yi YIN-HSIU CHIEN PEI-HSIN HUANG WUH-LIANG HWU SUNG-TSANG HSIEH NI-CHUNG LEE HSUEH-WEN HSUEH Chih-Chao Yang |
Keywords: | Whole-exome sequencing; motor neuron disease; myopathy; neuromuscular disorders; neuropathy | Issue Date: | 2023 | Journal Volume: | 10 | Journal Issue: | 4 | Start page/Pages: | 667 | Source: | Journal of neuromuscular diseases | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636447 | ISSN: | 22143599 | DOI: | 10.3233/JND-230013 |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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