Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype.
ATP2A1
Brody Disease
Brody Myopathy
SERCA1
rare disease
whole-exome sequencing
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:
05
09
2023
accepted:
16
11
2023
medline:
21
12
2023
pubmed:
21
12
2023
entrez:
21
12
2023
Statut:
epublish
Résumé
Brody Disease is an exceptionally rare, autosomal recessive myopathy attributed to the pathogenic variants in the
Identifiants
pubmed: 38125752
doi: 10.3389/fgene.2023.1289312
pii: 1289312
pmc: PMC10731957
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1289312Informations de copyright
Copyright © 2023 Şahin, Badakal, Kovancılar Koç, Uysal and Başak.
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.