Case report: Novel frameshift mutation in
case report
congenital muscular dystrophy type 1A
exome sequencing
laminin subunit alpha 2 LAMA2
mutation
rare diseases
sequence analysis
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2023
2023
Historique:
received:
03
02
2023
accepted:
06
06
2023
medline:
7
7
2023
pubmed:
7
7
2023
entrez:
7
7
2023
Statut:
epublish
Résumé
Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the
Identifiants
pubmed: 37415604
doi: 10.3389/fgene.2023.1158350
pii: 1158350
pmc: PMC10319579
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1158350Informations de copyright
Copyright © 2023 Diaz-Lombana, Diaz-Ordoñez, Gutierrez-Medina and Pachajoa.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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