@article{oai:kanazawa-u.repo.nii.ac.jp:00012972,
 author = {Shimizu, Masami and Ino, Hidekazu and Yasuda, Toshihiko and Fujino, Noboru and Uchiyama, Katsuharu and Mabuchi, Tomohito and Konno, Tetsuo and Kaneda, Tomoya and Fujita, Takashi and Masuta, Eiichi and Kato, Masahiro and Funada, Akira and Mabuchi, Hiroshi},
 issue = {2},
 journal = {Circulation Journal},
 month = {Feb},
 note = {Background: Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. Methods and Results: A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac ﾎｲ-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, a cardiac actin, ﾎｱ tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. Conclusions: Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations., 金沢大学大学院医学系研究科},
 pages = {150--153},
 title = {Gene mutations in adult Japanese patients with dilated cardiomyopathy},
 volume = {69},
 year = {2005}
}