Article
Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death.
BMC cardiovascular disorders - 17 Dec 2019
Yokokawa Tetsuro, Ichimura Shohei, Hijioka Naoko, Kaneshiro Takashi, Yoshihisa Akiomi, Kunii Hiroyuki, Nakazato Kazuhiko, Ishida Takafumi, Suzuki Osamu, Ohno Seiko, Aiba Takeshi, Ohtani Hiroshi, Takeishi Yasuchika
Abstract excerpt
BACKGROUND: Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD). Various clinical features have been observed among patients who have the same LMNA mutation. Here, we show a family with cardiac laminopathy with a c.475G > T, p.E159* LMNA mutation, and...
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