Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects | Zendy

Andrea Gerbino | Zendy; Irene Bottillo | Zendy; Serena Milano | Zendy; Martina Lipari | Zendy; Roberta De Zio | Zendy; Silvia Morlino | Zendy; Maria Grazia Mola | Zendy; Giuseppe Procino | Zendy; Federica Re | Zendy; Elisabetta Zachara | Zendy; Paola Grammatico | Zendy; Maria Svelto | Zendy; Monica Carmosino | Zendy

Open Access

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

Author(s) -

Andrea Gerbino,

Irene Bottillo,

Serena Milano,

Martina Lipari,

Roberta De Zio,

Silvia Morlino,

Maria Grazia Mola,

Giuseppe Procino,

Federica Re,

Elisabetta Zachara,

Paola Grammatico,

Maria Svelto,

Monica Carmosino

Publication year - 2017

Publication title -

cellular physiology and biochemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.486

H-Index - 87

eISSN - 1421-9778

pISSN - 1015-8987

DOI - 10.1159/000485651

Subject(s) - lmna , hek 293 cells , transfection , microbiology and biotechnology , biology , lamin , connexin , wnt signaling pathway , cell culture , signal transduction , genetics , gap junction , intracellular , nucleus

Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but the molecular mechanisms involved in the disease they cause have not yet been systematically investigated. Here, we studied a novel frameshift LMNA variant (p.D243Gfs*4) identified in three members of an Italian family co-segregating with a severe form of cardiomyopathy with conduction defects.

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