{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T22:43:50Z","timestamp":1791585830230,"version":"4.3.4"},"reference-count":322,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T00:00:00Z","timestamp":1755475200000},"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>Myopathies and muscular dystrophies are a diverse group of rare or ultra-rare diseases that significantly impact patients\u2019 quality of life and pose major challenges for diagnosis and treatment. Despite their heterogeneity, many share common molecular mechanisms, particularly involving sarcomeric dysfunction, impaired autophagy, and disrupted gene expression. This review explores the genetic and pathophysiological foundations of major myopathy subtypes, including cardiomyopathies, metabolic and mitochondrial myopathies, congenital and distal myopathies, myofibrillar myopathies, inflammatory myopathies, and muscular dystrophies. Special emphasis is placed on the role of autophagy dysregulation in disease progression, as well as its therapeutic potential. We discuss emerging diagnostic approaches, such as whole-exome sequencing, advanced imaging, and muscle biopsy, alongside therapeutic strategies, including physiotherapy, supplementation, autophagy modulators, and gene therapies. Gene therapy methods, such as adeno-associated virus (AAV) vectors, CRISPR-Cas9, and antisense oligonucleotide, are evaluated for their promise and limitations. The review also highlights the potential of drug repurposing and artificial intelligence tools in advancing diagnostics and personalized treatment. By identifying shared molecular targets, particularly in autophagy and proteostasis networks, we propose unified therapeutic strategies across multiple myopathy subtypes. Finally, we discuss international research collaborations and rare disease programs that are driving innovation in this evolving field.<\/jats:p>","DOI":"10.3390\/ijms26167972","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T16:22:33Z","timestamp":1755534153000},"page":"7972","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies"],"prefix":"10.3390","volume":"26","author":[{"given":"Maja","family":"Ziemian","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Szmydtka","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Snoch","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"},{"name":"International Centre for Cancer Vaccine Science, University of Gdansk, K\u0142adki 24, 80-822 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1667-5140","authenticated-orcid":false,"given":"Sandra","family":"Milner","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szymon","family":"Wojciechowski","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"D\u0142uszczakowska","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub W.","family":"Chojnowski","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2634-4971","authenticated-orcid":false,"given":"Zofia","family":"Pallach","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2215-3169","authenticated-orcid":false,"given":"Katarzyna","family":"\u017bamojda","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4042-7466","authenticated-orcid":false,"given":"Grzegorz","family":"W\u0119grzyn","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-766X","authenticated-orcid":false,"given":"Estera","family":"Rintz","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gda\u0144sk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1093\/eurheartj\/ehv497","article-title":"European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology","volume":"37","author":"Elliott","year":"2016","journal-title":"Eur. 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