Article
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2017
Gerbino Andrea, Bottillo Irene, Milano Serena, Lipari Martina, Zio Roberta De, Morlino Silvia, Mola Maria Grazia, Procino Giuseppe, Re Federica, Zachara Elisabetta, Grammatico Paola, Svelto Maria, Carmosino Monica
Abstract excerpt
BACKGROUND/AIMS: 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. METHODS: HEK293 cells...
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