{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:52:19Z","timestamp":1790117539264,"version":"4.0.1"},"reference-count":267,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Lithuanian Research council","award":["S-MIP-24-111"],"award-info":[{"award-number":["S-MIP-24-111"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Abnormalities in X chromosomes, either numerical or structural, cause X-linked disorders, such as Duchenne muscular dystrophy (DMD). Recent molecular and cytogenetic techniques can help identify DMD gene mutations. The accurate diagnosis of Duchenne is crucial, directly impacting patient treatment management, genetics, and the establishment of effective prevention strategies. This review provides an overview of X chromosomal disorders affecting Duchenne and discusses how mutations in Dystrophin domains can impact detection accuracy. Firstly, the efficiency and use of cytogenetic and molecular techniques for the genetic diagnosis of Duchenne disease have, thus, become increasingly important. Secondly, artificial intelligence (AI) will be instrumental in developing future therapies by enabling the aggregation and synthesis of extensive and heterogeneous datasets, thereby elucidating underlying molecular mechanisms. However, despite advances in diagnostic technology, understanding the role of Dystrophin in Duchenne disease remains a challenge. Therefore, this review aims to synthesize this complex information to significantly advance the understanding of DMD and how it could affect patient care.<\/jats:p>","DOI":"10.3390\/ijms26083579","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T10:47:41Z","timestamp":1744282061000},"page":"3579","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights"],"prefix":"10.3390","volume":"26","author":[{"given":"Julija","family":"Sarvutiene","sequence":"first","affiliation":[{"name":"State Research Institute Center for Physical Sciences and Technology (FTMC), Sauletekio Av. 3, LT-10257 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0885-3556","authenticated-orcid":false,"given":"Arunas","family":"Ramanavicius","sequence":"additional","affiliation":[{"name":"State Research Institute Center for Physical Sciences and Technology (FTMC), Sauletekio Av. 3, LT-10257 Vilnius, Lithuania"},{"name":"Department of Physical Chemistry, Institute of Chemistry, Faculty of Chemistry and Geosciences, Vilnius University, Naugarduko St. 24, LT-03225 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1432-3866","authenticated-orcid":false,"given":"Simonas","family":"Ramanavicius","sequence":"additional","affiliation":[{"name":"State Research Institute Center for Physical Sciences and Technology (FTMC), Sauletekio Av. 3, LT-10257 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6118-3777","authenticated-orcid":false,"given":"Urte","family":"Prentice","sequence":"additional","affiliation":[{"name":"State Research Institute Center for Physical Sciences and Technology (FTMC), Sauletekio Av. 3, LT-10257 Vilnius, Lithuania"},{"name":"Department of Physical Chemistry, Institute of Chemistry, Faculty of Chemistry and Geosciences, Vilnius University, Naugarduko St. 24, LT-03225 Vilnius, Lithuania"},{"name":"Department of Personalised Medicine, State Research Institute Center for Innovative Medicine, Santariskiu St. 5, LT-08410 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"ref_1","first-page":"3","article-title":"1 Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myoscl\u00e9rosique","volume":"39","year":"1965","journal-title":"Clin. 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