{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:52:00Z","timestamp":1791424320430,"version":"4.3.3"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"vor","delay-in-days":87,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"2025 Hebei Province Medical Applicable Technology Tracking Project","award":["GZ20250077"],"award-info":[{"award-number":["GZ20250077"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Duchenne muscular dystrophy (DMD) is a rare X-linked neuromuscular disorder characterised by heterogeneous early manifestations. This study summarised the clinical, pathological, and genetic characteristics of patients with DMD in northern China and identified useful indicators for diagnosis and disease assessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Twenty-three DMD patients at the Second Hospital of Hebei Medical University between 2014 and 2022 were retrospectively reviewed. Clinical data, laboratory findings, electrocardiography, electromyography, muscle pathology, dystrophin immunohistochemistry, and DMD gene variants were analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Age at onset ranged from 0.5 to 7.5 years, mainly between 3.5 and 6.0 years. Bilateral lower-limb weakness and exercise intolerance were observed in 21 patients. All patients had elevated myocardial enzymes, decreased serum creatinine, elevated inorganic phosphate, and myogenic changes on electromyography; 22 had elevated transaminases and 17 had abnormal electrocardiograms. Muscle pathology showed connective tissue and fatty infiltration in all cases, with fibre atrophy. Dystrophin immunohistochemistry revealed complete loss of dystrophin-N\/C\/R in 21 patients and partial loss in two patients. Muscle strength was positively correlated with CK, CKMB, ALT, AST, LDH, and creatinine. Genetic testing identified 15 deletions, five duplications, and three small mutations, including a novel frameshift variant. Among 21 patients with parental testing, 10 mothers were carriers and 11 cases were considered de novo.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>DMD exhibited distinct clinicopathological and genetic patterns. Unexplained transaminase or myocardial enzyme elevation, decreased serum creatinine, and early motor abnormalities should prompt DMD genetic testing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04488-y","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T11:34:24Z","timestamp":1783942464000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, pathological, and genetic characteristics of 23 DMD patients in northern China"],"prefix":"10.1186","volume":"21","author":[{"given":"Yi","family":"Bu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingzhe","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinliang","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pingping","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaojuan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"key":"4488_CR1","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1080\/14712598.2021.1872539","volume":"21","author":"T Aslesh","year":"2021","unstructured":"Aslesh T, Erkut E, Yokota T. Restoration of dystrophin expression and correction of Duchenne muscular dystrophy by genome editing. Expert Opin Biol Ther. 2021;21:1049\u201361.","journal-title":"Expert Opin Biol Ther"},{"key":"4488_CR2","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","volume":"2","author":"F Muntoni","year":"2003","unstructured":"Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2:731\u201340.","journal-title":"Lancet Neurol"},{"key":"4488_CR3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","volume":"9","author":"K Bushby","year":"2010","unstructured":"Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. 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This study was approved by the Ethics Committee of the Second Hospital of Hebei Medical University(2022-P005), and informed consent was obtained from the legal guardians of the study participants. The study was carried out in accordance with the applicable guidelines and regulations.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"352"}}