isvee13

Familial dilated cardiomyopathy brought on by a novel variant

Subsequent technology sequencing reveals a novel pathogenic variant within the ATMgene   Introduction: Ataxia telangiectasia (A-T) is a unusual autosomal recessive multisystemic sickness. Victims with the A-T syndrome present a broad spectrum of sickness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.   Methodology: A affected individual of Persian origin