DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy
Abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-inherited neuromuscular diseases. The genetic diagnosis has been used as the diagnostic choice for DMD/BMD. The study subjects consisted of 37 patients from Southwest China. 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>T; c.1923 + 1G>A), one missense mutation (c.1946G>T), one nonsense mutation (c.7441G>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.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy ; volume:19 ; number:1 ; year:2024 ; extent:8
Open medicine ; 19, Heft 1 (2024) (gesamt 8)
- Creator
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Ge, Liping
Yang, Yang
Yang, Yanfei
Chen, Yanfei
Tao, Na
Zhang, Liping
Zhao, Canmiao
Zhang, Xing
- DOI
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10.1515/med-2024-0916
- URN
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urn:nbn:de:101:1-2411151435430.765763499560
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:27 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Ge, Liping
- Yang, Yang
- Yang, Yanfei
- Chen, Yanfei
- Tao, Na
- Zhang, Liping
- Zhao, Canmiao
- Zhang, Xing
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