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Article

Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.

Molecular genetics and metabolism - 1 Jun 2010

Chang Bo, Momoi Nobuo, Shan Lishen, Mitomo Masaki, Aoyagi Yoshimichi, Endo Kisei, Takeda Izumi, Chen Rui, Xing Yanlin, Yu Xianyi, Watanabe Sayaka, Yoshida Taketoshi, Kanegane Hirokazu, Tsubata Shinichi, Bowles Neil E, Ichida Fukiko, Miyawaki Toshio

Abstract excerpt

TAZ (G4.5) was initially identified as the gene associated with Barth syndrome and left ventricular noncompaction (LVNC). The purpose of this study was to investigate patients with LVNC for disease-causing mutations in TAZ. In 124 Japanese patients, including 50 families, mutation analysis of TAZ was performed using DNA sequencing. A splice donor mutation was identified in two brothers with Barth syndrome and...

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PMID: 20303308
DOI: 10.1016/j.ymgme.2010.02.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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