A Novel Nonsense Pathogenic

M-band region TTN dilated cardiomyopathy genetic nonsense pathogenic variant sudden cardiac death

Journal

Current issues in molecular biology
ISSN: 1467-3045
Titre abrégé: Curr Issues Mol Biol
Pays: Switzerland
ID NLM: 100931761

Informations de publication

Date de publication:
15 Mar 2023
Historique:
received: 24 02 2023
revised: 10 03 2023
accepted: 13 03 2023
medline: 29 3 2023
entrez: 28 3 2023
pubmed: 29 3 2023
Statut: epublish

Résumé

Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved,

Identifiants

pubmed: 36975527
pii: cimb45030157
doi: 10.3390/cimb45030157
pmc: PMC10047881
doi:

Types de publication

Case Reports

Langues

eng

Pagination

2422-2430

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Auteurs

Caterina Micolonghi (C)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.

Marco Fabiani (M)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Human Genetics, ALTAMEDICA, 00198 Rome, Italy.

Erika Pagannone (E)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Camilla Savio (C)

S. Andrea University Hospital, 00189 Rome, Italy.

Marta Ricci (M)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Silvia Caroselli (S)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Reproductive Genetics, Juno Genetics, 00188 Rome, Italy.

Vittoria Gambioli (V)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Beatrice Musumeci (B)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Aldo Germani (A)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Giacomo Tini (G)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Camillo Autore (C)

San Raffaele Cassino, 03043 Frosinone, Italy.

Antonio Pizzuti (A)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

Vincenzo Visco (V)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
S. Andrea University Hospital, 00189 Rome, Italy.

Speranza Rubattu (S)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
IRCCS, Neuromed, 86077 Pozzilli, Italy.

Simona Petrucci (S)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
S. Andrea University Hospital, 00189 Rome, Italy.

Maria Piane (M)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
S. Andrea University Hospital, 00189 Rome, Italy.

Classifications MeSH