Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (
cardiomyopathy
cardiovascular genetics
desmin
desmin-related myopathy
desminopathy
intermediate filaments
restrictive cardiomyopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
11 11 2019
11 11 2019
Historique:
received:
10
10
2019
revised:
05
11
2019
accepted:
08
11
2019
entrez:
14
11
2019
pubmed:
14
11
2019
medline:
6
5
2020
Statut:
epublish
Résumé
Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the
Identifiants
pubmed: 31718026
pii: genes10110918
doi: 10.3390/genes10110918
pmc: PMC6896098
pii:
doi:
Substances chimiques
Desmin
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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