… by variants in sarcomere and cytoskeletal proteins as shown in … genetic backgrounds and
high prevalence of sarcomere … useful tools for analyzing specific mutations, however, typically, …

… One recent systematic review reported that 292 (52%) of the 561 genetic LVNC patients
they identified had carried a sarcomere-related mutation. The next 2 most common gene …

… , for mutations in seven genes encoding sarcomere proteins, … Sarcomere genes are implicated
as genetic triggers in the … expression of numerous genes involved in heart development, …

… Mutations in sarcomere genes may exert their effect … the mutant protein acts as a “poison
polypeptide” or by haplo-insufficiency resulting in less protein); mutated cytoskeletal proteins …

… sarcomeric gene mutations. However, mutations in cytoskeletal and ion channel-encoding
genes as well as in genes … patients with left ventricular noncompaction reveals a large genetic …

… Sarcomeric mutations are associated with LVNC and are still the major cardiomyopathy genes
… a mutation in 1 of only 3 sarcomeric genes: MYH7, TTN, or MYBPC3 (3). TTN truncating …

… In a comprehensive review of 172 studies on the genotype - phenotype correlation in LVHT
patients mutations in sarcomere genes such as MYH7, ACTC1, MYBPC3, and TTN were the …

… protein genes are the most common pathogenic genes [12]. Relevant studies have confirmed
that the sarcomere protein genes … titin gene (TTN) belongs to the sarcomere protein genes …

… variants identified in LVNC patients supported this theory, as most were in sarcomeric
genes associated with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). …

… sarcomeric genes (… left ventricular noncompaction cardiomyopathy (LVNC). Pathogenic
variants in MYH7 (MIM# 160760) have primarily been correlated with significant left ventricular …