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 Kraoua , Hager Jaouadi (1, 2) , Mohamed Allouche , Ahlem Achour , Hakim Kaouther , Habib Ben Ahmed , Lilia Chaker , Faouzi Maazoul , Fatma Ouarda , Stéphane Zaffran (2) , Ridha M'Rad

1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Domains: Life Sciences [q-bio]; Genetics

Lilia Kraoua, Hager Jaouadi, Mohamed Allouche, Ahlem Achour, Hakim Kaouther, et al.. 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. MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (7), ⟨10.1002/mgg3.1954⟩. ⟨hal-03780229⟩