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Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy

Abstract Background Restrictive cardiomyopathy (RCM) is a rare cardiac disorder characterized by diastolic dysfunction and myocardial stiffness, frequently associated with genetic variants. We aimed to explore the genetic basis of RCM in a diagnosed patient through comprehensive genetic analysis. Me...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Tannaz Masoumi, Hamed Hesami, Majid Maleki, Samira Kalayinia
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2025-04-01
Schriftenreihe:BMC Medical Genomics
Schlagworte:
Restrictive cardiomyopathy
Mutation
Variant
Whole exome sequencing
TNNI3
Online-Zugang:https://doi.org/10.1186/s12920-025-02150-3
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