Ontology highlight
ABSTRACT:
SUBMITTER: Gao S
PROVIDER: S-EPMC8758524 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Gao Shanshan S Mumme-Monheit Abigail A Chen Suet Nee SN Spector Elaine B EB Slavov Dobromir D Baralle Francisco E FE Bristow Michael R MR Mestroni Luisa L Taylor Matthew R G MRG
American journal of medical genetics. Part A 20211015 2
Dilated cardiomyopathy (DCM) is one of the most common cardiac phenotypes caused by mutations of lamin A/C (LMNA) gene in humans. In our study, a cohort of 57 patients who underwent heart transplant for dilated cardiomyopathy was screened for variants in LMNA. We identified a synonymous variant c.936G>A in the last nucleotide of exon 5 of LMNA in a DCM family. Clinically, the LMNA variant carriers presented with severe familial DCM, conduction disease, and high creatine-kinase level. The LMNA c. ...[more]