https://scholars.lib.ntu.edu.tw/handle/123456789/636447
標題: | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | 作者: | 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 |
關鍵字: | Whole-exome sequencing; motor neuron disease; myopathy; neuromuscular disorders; neuropathy | 公開日期: | 2023 | 卷: | 10 | 期: | 4 | 起(迄)頁: | 667 | 來源出版物: | Journal of neuromuscular diseases | 摘要: | 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 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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