Article
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.
Molecular genetics and metabolism - 1 Dec 2002
Chen Rui, Tsuji Tohru, Ichida Fukiko, Bowles Karla R, Yu Xianyi, Watanabe Sayaka, Hirono Keiichi, Tsubata Shinichi, Hamamichi Yuji, Ohta Jun, Imai Yasuharu, Bowles Neil E, Miyawaki Toshio, Towbin Jeffrey A
Abstract excerpt
Mutations in the gene G4.5, originally associated with Barth syndrome, have been reported to result in a wide spectrum of severe infantile X-linked cardiomyopathies. The purpose of this study was to investigate patients with isolated left ventricular noncompaction (LVNC) for disease-causing mutations in G4.5. In 27 patients including 10 families with isolated LVNC, mutation analysis of G4.5 was performed using...
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