A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.
deletion
dystrophy Duchenne
whole exome sequencing
Journal
DNA and cell biology
ISSN: 1557-7430
Titre abrégé: DNA Cell Biol
Pays: United States
ID NLM: 9004522
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
medline:
10
5
2023
pubmed:
1
4
2023
entrez:
31
3
2023
Statut:
ppublish
Résumé
Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of, or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family.
Identifiants
pubmed: 36999906
doi: 10.1089/dna.2022.0589
doi:
Substances chimiques
Dystrophin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM