DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

ABSTRACT:

Background

Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. Improved early detection of individuals at risk is needed.

Methods

Genetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, and array comparative genomic hybridization. Variant location was assessed with respect to dystrophin isoform patterns and exon usage. Telomere length was evaluated as a marker of myocardial dysfunction in left ventricular tissue and blood.

Results

Four pathogenic/likely pathogenic DMD

SUBMITTER: Johnson R 

PROVIDER: S-EPMC10592075 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature