{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:47:29Z","timestamp":1790567249296,"version":"4.1.0"},"reference-count":81,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,4,22]],"date-time":"2023-04-22T00:00:00Z","timestamp":1682121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. In general the pathophysiology of metabolic myopathies needs to be better understood. Thanks to the advent of next-generation sequencing (NGS), genetic testing has replaced more invasive investigations and sophisticated enzymatic assays to reach a final diagnosis in many cases. The current diagnostic algorithms for metabolic myopathies have integrated this paradigm shift and restrict invasive investigations for complicated cases. Moreover, NGS contributes to the discovery of novel genes and proteins, providing new insights into muscle metabolism and pathophysiology. More importantly, a growing number of these conditions are amenable to therapeutic approaches such as diets of different kinds, exercise training protocols, and enzyme replacement therapy or gene therapy. Prevention and management\u2014notably of rhabdomyolysis\u2014are key to avoiding serious and potentially life-threatening complications and improving patients\u2019 quality of life. Although not devoid of limitations, the newborn screening programs that are currently mushrooming across the globe show that early intervention in metabolic myopathies is a key factor for better therapeutic efficacy and long-term prognosis. As a whole NGS has largely increased the diagnostic yield of metabolic myopathies, but more invasive but classical investigations are still critical when the genetic diagnosis is unclear or when it comes to optimizing the follow-up and care of these muscular disorders.<\/jats:p>","DOI":"10.3390\/genes14050954","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T04:01:23Z","timestamp":1682308883000},"page":"954","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Metabolic Myopathies in the Era of Next-Generation Sequencing"],"prefix":"10.3390","volume":"14","author":[{"given":"Jon Andoni","family":"Urtizberea","sequence":"first","affiliation":[{"name":"Institut de Myologie, la Piti\u00e9-Salp\u00e9tri\u00e8re Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianmarco","family":"Severa","sequence":"additional","affiliation":[{"name":"Department of Medical, Surgical and Neurological Sciences, Neurology-Neurophysiology Unit, University of Siena, Policlinico Le Scotte, Viale Bracci 1, 5310 Siena, Italy"},{"name":"Universit\u00e9 Paris Est, U955, IMRB, INSERM, APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7871-8600","authenticated-orcid":false,"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Est, U955, IMRB, INSERM, APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1212\/CON.0000000000000403","article-title":"Metabolic Myopathies","volume":"22","author":"Tarnopolsky","year":"2016","journal-title":"Contin. 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