The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis

Background: 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...

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Bibliographic Details
Main Authors: Hsueh-Wen Hsueh, Wen-Chin Weng, Pi-Chuan Fan, Yin-Hsiu Chien, Feng-Jung Yang, Wang-Tso Lee, Ru-Jen Lin, Wuh-Liang Hwu, Chih-Chao Yang, Ni-Chung Lee
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Journal of the Formosan Medical Association
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664622002522