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While the phenotypic presentation of these disorders is diverse, the unifying feature is a pathomechanism that disrupts neuromuscular transmission. Recently, two mitochondrial genes\u2014SLC25A1 and TEFM\u2014have been reported in patients with suspected CMS, prompting a discussion about the role of mitochondria at the neuromuscular junction (NMJ). Mitochondrial disease and CMS can present with similar symptoms, and potentially one in four patients with mitochondrial myopathy exhibit NMJ defects. This review highlights research indicating the prominent roles of mitochondria at both the pre- and postsynapse, demonstrating the potential for mitochondrial involvement in neuromuscular transmission defects. We propose the establishment of a novel subcategorization for CMS\u2014mitochondrial CMS, due to unifying clinical features and the potential for mitochondrial defects to impede transmission at the pre- and postsynapse. Finally, we highlight the potential of targeting the neuromuscular transmission in mitochondrial disease to improve patient outcomes.<\/jats:p>","DOI":"10.3390\/ijms24108505","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T03:32:27Z","timestamp":1683689547000},"page":"8505","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5784-2619","authenticated-orcid":false,"given":"Kaela","family":"O\u2019Connor","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada"},{"name":"Centre for Neuromuscular Disease, University of Ottawa Brain and Mind Research Institute, Ottawa, ON K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9579-3514","authenticated-orcid":false,"given":"Sally","family":"Spendiff","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L6, Canada"},{"name":"Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8M5, Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center\u2014University of Freiburg, 79104 Freiburg, Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge, Cambridge CB3 0FD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,9]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Everman, D.B., and Mirzaa, G.M. 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