Mutation spectrum analysis of
Becker muscular dystrophy
DMD gene
Duchenne muscular dystrophy
Indonesia
MLPA
mutation analysis
Journal
F1000Research
ISSN: 2046-1402
Titre abrégé: F1000Res
Pays: England
ID NLM: 101594320
Informations de publication
Date de publication:
2022
2022
Historique:
accepted:
13
11
2023
medline:
28
11
2023
pubmed:
27
11
2023
entrez:
27
11
2023
Statut:
epublish
Résumé
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the This study is a cross sectional study that enrolled 43 male patients with a clinical suspicion of Out of 43 subjects, deletions accounted for 69.77% (n=30) cases, while duplications were found in 11.63% (n=5) cases. One novel duplication spanning exons 2 to 62 was identified. Deletion mutations clustered around the distal (66.67%) and proximal (26.67%) hot spot regions of the This is the first comprehensive study showing the feasibility of implementing the MLPA method for routine screening of
Sections du résumé
Background
UNASSIGNED
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the
Methods
UNASSIGNED
This study is a cross sectional study that enrolled 43 male patients with a clinical suspicion of
Results
UNASSIGNED
Out of 43 subjects, deletions accounted for 69.77% (n=30) cases, while duplications were found in 11.63% (n=5) cases. One novel duplication spanning exons 2 to 62 was identified. Deletion mutations clustered around the distal (66.67%) and proximal (26.67%) hot spot regions of the
Conclusion
UNASSIGNED
This is the first comprehensive study showing the feasibility of implementing the MLPA method for routine screening of
Identifiants
pubmed: 38009102
doi: 10.12688/f1000research.73476.3
pmc: PMC10668572
doi:
Substances chimiques
Dystrophin
0
DMD protein, human
0
Banques de données
figshare
['10.6084/m9.figshare.15172167.V2']
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
148Informations de copyright
Copyright: © 2023 Dwianingsih EK et al.
Déclaration de conflit d'intérêts
No competing interests were disclosed.
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