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Article

A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy.

International heart journal - 30 May 2018

Kawakami Hiroshi, Ogimoto Akiyoshi, Tokunaga Naohito, Nishimura Kazuhisa, Kawakami Hideo, Higashi Haruhiko, Iio Chiharuko, Kono Tamami, Aono Jun, Uetani Teruyoshi, Nagai Takayuki, Inoue Katsuji, Suzuki Jun, Ikeda Shuntaro, Okura Takafumi, Ohyagi Yasumasa, Tabara Yasuharu, Higaki Jitsuo

Abstract excerpt

The cardiac phenotype of laminopathies is characterized by cardiac conduction disorders (CCDs) and dilated cardiomyopathy (DCM). Although laminopathies have been considered monogenic, they exhibit a remarkable degree of clinical variability. This case series aimed to detect the causal mutation and to investigate the causes of clinical variability in a Japanese family with inherited CCD and DCM.Of the five family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29628476
DOI: 10.1536/ihj.17-377

Genes

LMNA

Variants

Provenance

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