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Peripheral blood was collected for the extraction of genomic DNA. DMD mutation was sequenced using the next-generation sequencing approach. The detected mutation was validated using the multiplex ligation-dependent probe amplification or Sanger sequencing methods. Variation annotation and pathogenicity prediction were performed using the online databases. Pathogenic mutations were identified 3 splicing site, 7 single nucleotide, 1 indel, 23 deletion, and 3 duplication mutations. Novel DMD variants were discovered, including two novel splicing variations (c.1890 + 1G&gt;T; c.1923 + 1G&gt;A), one missense mutation (c.1946G&gt;T), one nonsense mutation (c.7441G&gt;T), one indel mutation (INDEL EX20), and one duplication mutation (DUP EX75-78). The current study provides mutation information of DMD for the genetic diagnosis of DMD\/BMD.<\/jats:p>","DOI":"10.1515\/med-2024-0916","type":"journal-article","created":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T04:51:54Z","timestamp":1731646314000},"source":"Crossref","is-referenced-by-count":2,"title":["DMD mutations in pediatric patients with phenotypes of Duchenne\/Becker muscular dystrophy"],"prefix":"10.1515","volume":"19","author":[{"given":"Liping","family":"Ge","sequence":"first","affiliation":[{"name":"Department of Endosecretory Genetic and Metabolic Diseases, Kunming Children\u2019s Hospital , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endosecretory Genetic and Metabolic Diseases, Kunming Children\u2019s Hospital , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Yang","sequence":"additional","affiliation":[{"name":"The Special Wards, Kunming Children\u2019s Hospital , Kunming 650000, Yunnan Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Internal Medicine, Kunming Children\u2019s Hospital , Yunnan Province , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Endosecretory Genetic and Metabolic Diseases, Kunming Children\u2019s Hospital , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Medical Department, Kunming Children\u2019s Hospital , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canmiao","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Endosecretory Genetic and Metabolic Diseases, Kunming Children\u2019s Hospital , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Internal Medicine, Kunming Children\u2019s Hospital , Yunnan Province , Kunming 650000 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,11,15]]},"reference":[{"key":"2024111504514770662_j_med-2024-0916_ref_001","doi-asserted-by":"crossref","unstructured":"Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. 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