Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
Lilia KraouaHager JaouadiMohamed AlloucheAhlem AchourHakim KaoutherHabib Ben AhmedLilia ChakerFaouzi MaazoulFatma OuardaStephane ZaffranRidha M'radPublished in: Molecular genetics & genomic medicine (2022)
The present study adds further evidence on the pathogenicity of ACTN2: p. Ala119Thr variant in SCD and expands the mutational spectrum of the LZTR1 gene related to Noonan syndrome.