{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:25:20Z","timestamp":1790429120318,"version":"4.1.0"},"reference-count":161,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Neuromuscular diseases (NMDs) belong to a class of functional impairments that cause dysfunctions of the motor neuron-muscle functional axis components. Inherited monogenic neuromuscular disorders encompass both muscular dystrophies and motor neuron diseases. Understanding of their causative genetic defects and pathological genetic mechanisms has led to the unprecedented clinical translation of genetic therapies. Challenged by a broad range of gene defect types, researchers have developed different approaches to tackle mutations by hijacking the cellular gene expression machinery to minimize the mutational damage and produce the functional target proteins. Such manipulations may be directed to any point of the gene expression axis, such as classical gene augmentation, modulating premature termination codon ribosomal bypass, splicing modification of pre-mRNA, etc. With the soar of the CRISPR-based gene editing systems, researchers now gravitate toward genome surgery in tackling NMDs by directly correcting the mutational defects at the genome level and expanding the scope of targetable NMDs. In this article, we will review the current development of gene therapy and focus on NMDs that are available in published reports, including Duchenne Muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked myotubular myopathy (XLMTM), Spinal Muscular Atrophy (SMA), and Limb-girdle muscular dystrophy Type 2C (LGMD2C).<\/jats:p>","DOI":"10.3390\/ijms21249589","type":"journal-article","created":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T09:21:15Z","timestamp":1608110475000},"page":"9589","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases"],"prefix":"10.3390","volume":"21","author":[{"given":"Wei","family":"Chiu","sequence":"first","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hsin","family":"Hsun","sequence":"additional","affiliation":[{"name":"Department of Psychology, University of Toronto, Toronto, ON M1C 1A4, Canada"},{"name":"Department of Biological Science, University of Toronto, Toronto, ON M1C 1A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kao-Jung","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliaksandr A.","family":"Yarmishyn","sequence":"additional","affiliation":[{"name":"Division of Basic Research, Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0783-605X","authenticated-orcid":false,"given":"Yu-Jer","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueh","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Division of Basic Research, Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chian-Shiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei 112201, Taiwan"},{"name":"Institute of Pharmacology, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Taiwan University, Taipei 10617, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Ping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Division of Basic Research, Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan"},{"name":"Institute of Food Safety and Health Risk Assessment, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2141-1872","authenticated-orcid":false,"given":"Ping-Hsing","family":"Tsai","sequence":"additional","affiliation":[{"name":"Division of Basic Research, Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan"},{"name":"Institute of Pharmacology, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih-Hwa","family":"Chiou","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei 112201, Taiwan"},{"name":"Institute of Pharmacology, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Institute of Food Safety and Health Risk Assessment, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Genomic Research Center, Academia Sinica, Taipei 11529, Taiwan"},{"name":"Center for Intelligent Drug Systems and Smart Bio-devices (IDS2B), National Chiao-Tung University, Hsinchu 1001, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7906-1612","authenticated-orcid":false,"given":"Ting-Yi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medicine, Kaohsiung Medical University, Kaohsiung 80708, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3885-6600","authenticated-orcid":false,"given":"Hao-Min","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei 112201, Taiwan"},{"name":"Center for Evidence-based Medicine, Taipei Veterans General Hospital, Taipei 112201, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,16]]},"reference":[{"key":"ref_1","first-page":"325210","article-title":"Duchenne and Becker muscular dystrophy: Contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco","volume":"2009","author":"Bellayou","year":"2009","journal-title":"J. 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