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.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
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)
- Urheber
-
Ge, Liping
Yang, Yang
Yang, Yanfei
Chen, Yanfei
Tao, Na
Zhang, Liping
Zhao, Canmiao
Zhang, Xing
- DOI
-
10.1515/med-2024-0916
- URN
-
urn:nbn:de:101:1-2411151435430.765763499560
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:27 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Ge, Liping
- Yang, Yang
- Yang, Yanfei
- Chen, Yanfei
- Tao, Na
- Zhang, Liping
- Zhao, Canmiao
- Zhang, Xing
Ähnliche Objekte (12)
Infrastructure Finance under the Framework of the Belt and Road Initiative (BRI)
Chuan bo xue shi jiao xia guang gao ce hua yan jiu : = Research on advertising planning from a communicative perspective
Nickel Hydr (oxy) oxide Nanoparticles on Metallic MoS 2 Nanosheets: A Synergistic Electrocatalyst for Hydrogen Evolution Reaction
Association of a history of gestational diabetes mellitus with osteoporosis, bone mineral density, and trabecular bone score in postmenopausal women
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Analysis of scalable channel estimation in FDD massive MIMO
Integrating blockchain and ZK-ROLLUP for efficient healthcare data privacy protection system via IPFS
Scalable user selection in FDD massive MIMO
A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells
Optimal scheduling of logistical support for medical resources order and shipment in community health service centers
Can we reconstruct the formation of large open ocean polynyas in the Southern Ocean using ice core records?
Infrastructure Finance under the Framework of the Belt and Road Initiative (BRI)
Chuan bo xue shi jiao xia guang gao ce hua yan jiu : = Research on advertising planning from a communicative perspective
Nickel Hydr (oxy) oxide Nanoparticles on Metallic MoS 2 Nanosheets: A Synergistic Electrocatalyst for Hydrogen Evolution Reaction
Association of a history of gestational diabetes mellitus with osteoporosis, bone mineral density, and trabecular bone score in postmenopausal women
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Analysis of scalable channel estimation in FDD massive MIMO
Integrating blockchain and ZK-ROLLUP for efficient healthcare data privacy protection system via IPFS
Scalable user selection in FDD massive MIMO
A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells
Optimal scheduling of logistical support for medical resources order and shipment in community health service centers
Can we reconstruct the formation of large open ocean polynyas in the Southern Ocean using ice core records?
Infrastructure Finance under the Framework of the Belt and Road Initiative (BRI)
Chuan bo xue shi jiao xia guang gao ce hua yan jiu : = Research on advertising planning from a communicative perspective
Nickel Hydr (oxy) oxide Nanoparticles on Metallic MoS 2 Nanosheets: A Synergistic Electrocatalyst for Hydrogen Evolution Reaction
Association of a history of gestational diabetes mellitus with osteoporosis, bone mineral density, and trabecular bone score in postmenopausal women
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Analysis of scalable channel estimation in FDD massive MIMO
Integrating blockchain and ZK-ROLLUP for efficient healthcare data privacy protection system via IPFS
Scalable user selection in FDD massive MIMO
A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells
Optimal scheduling of logistical support for medical resources order and shipment in community health service centers