Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies-Reference-Cited by-同舟云学术

Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies

Published:2020-04 Issue:2 Volume:13 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Armaroli Annarita¹,Balla Cristina²,Trabanelli Cecilia¹,Selvatici Rita¹,Brieda Alessandro²,Sette Elisabetta³,Bertini Matteo²,Mele Donato²,Biffi Mauro⁴,Campo Gianluca Calogero²⁵,Ferrari Roberto²⁵,Ferlini Alessandra¹⁶,Gualandi Francesca¹^ORCID

Affiliation:

1. Medical Genetics Unit (A.A., C.T., R.S., A.F., F.G.), S. Anna University Hospital, Ferrara.

2. Cardiology Unit (C.B., A.B., M. Bertini, D.M., G.C.C., R.F.), S. Anna University Hospital, Ferrara.

3. Neurology Unit (E.S.), S. Anna University Hospital, Ferrara.

4. Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi University Hospital (M. Biffi\).

5. Maria Cecilia Hospital, GVM Care & Research, Cotignola, Italy (G.C.C., R.F.).

6. Dubowitz Neuromuscular Unit, University College London, United Kingdom (A.F.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Link

https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002751

Reference6 articles.

1. Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing

2. Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers

3. The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope

4. The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

5. Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome

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