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Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
Sono R, Larrinaga TM, Huang A, Makhlouf F, Kang X, Su J, Lau R, Arboleda VA, Biniwale R, Fishbein GA, Khanlou N, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defects-BioCore Faculty, Van Arsdell GS, Gregorio CC, Nelson S, Touma M. Sono R, et al. Among authors: larrinaga tm. Cells. 2023 May 23;12(11):1455. doi: 10.3390/cells12111455. Cells. 2023. PMID: 37296576 Free PMC article.
Lmod2 is necessary for effective skeletal muscle contraction.
Larrinaga TM, Farman GP, Mayfield RM, Yuen M, Ahrens-Nicklas RC, Cooper ST, Pappas CT, Gregorio CC. Larrinaga TM, et al. Sci Adv. 2024 Mar 15;10(11):eadk1890. doi: 10.1126/sciadv.adk1890. Epub 2024 Mar 13. Sci Adv. 2024. PMID: 38478604 Free PMC article.
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC. Ahrens-Nicklas RC, et al. Among authors: larrinaga tm. Sci Adv. 2019 Sep 4;5(9):eaax2066. doi: 10.1126/sciadv.aax2066. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31517052 Free PMC article.