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: si ms.
Cells. 2023 May 23;12(11):1455. doi: 10.3390/cells12111455.
Cells. 2023.
PMID: 37296576
Free PMC article.
Few reports have implicated homozygous loss of function variants of LMOD2 in neonatal dilated cardiomyopathy (DCM) associated with thin filament shortening. We present the fifth case of DCM due to biallelic variants in the LMOD2 gene and the second case with the c.1 …
Few reports have implicated homozygous loss of function variants of LMOD2 in neonatal dilated cardiomyopathy (DCM) associated with th …