A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.


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
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

Pagination

248-253

Auteurs

Saman Ameri-Mahabadi (S)

Student Research Committee, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.

Ali Nikfar (A)

Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.
Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran.

Mojdeh Mansouri (M)

Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.

Hossein Chiti (H)

Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.

Gita Fatemi Abhari (GF)

Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran.

Negin Parsamanesh (N)

Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.
Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.

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Classifications MeSH