https://scholars.lib.ntu.edu.tw/handle/123456789/617822
標題: | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | 作者: | HSUEH-WEN HSUEH WEN-CHIN WENG PI-CHUAN FAN YIN-HSIU CHIEN FENG-JUNG YANG WANG-TSO LEE Lin, Ru-Jen WUH-LIANG HWU Chih-Chao Yang NI-CHUNG LEE |
關鍵字: | Myopathy; Neuromuscular diseases; Neuropathy; Next-generation sequencing | 公開日期: | 十二月-2022 | 卷: | 121 | 期: | 12 | 起(迄)頁: | 2574 | 來源出版物: | Journal of the Formosan Medical Association = Taiwan yi zhi | 摘要: | Hereditary neuromuscular diseases (NMDs) are a group of rare disorders, and the diagnosis of these diseases is a substantial burden for referral centers. Although next-generation sequencing (NGS) has identified a large number of genes associated with hereditary NMDs, the diagnostic rates still vary across centers. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/617822 | ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2022.06.012 |
顯示於: | 醫學系 |
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