※一部利用できない機能があります
| 1.
図書 |
図書
|
小沢鍈二郎著
|
||||
| 2.
論文 |
論文
|
安田, 敏彦
概要:
金沢大学医第2内科<br />男性DCM患者連続50症例を対象に末梢血リンパ球よりゲノムDNAを抽出し,マルチプレックスPCR法によってジストロフィン遺伝子異常を検索同定した.全例に心エコー図検査を施行し冠動脈疾患を除外した結果,ジストロフ
…
ィン遺伝子異常は4例(8名)に認められ,エクソン45-48の欠失2例,45-51,48-52の欠失がそれぞれ1例であった.遺伝子異常例では,平均44歳で他のDCM症例の平均60歳に比し若年であり,3例にDCMや若年突然死の家族歴を有していた.平均血清CPK値は670IU/Iで平均107IU/Iに比し高値であった.又,全ての症例に心臓刺激伝導障害を認めた.心エコー図検索所見は他のDCM症例と差異を認めなかった<br />原著論文
続きを見る
|
||||
| 3.
論文 |
論文
|
Shimizu, Masami ; Ino, Hidekazu ; Yasuda, Toshihiko ; Fujino, Noboru ; Uchiyama, Katsuharu ; Mabuchi, Tomohito ; Konno, Tetsuo ; Kaneda, Tomoya ; Fujita, Takashi ; Masuta, Eiichi ; Kato, Masahiro ; Funada, Akira ; Mabuchi, Hiroshi
概要:
金沢大学大学院医学系研究科 <br />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.
続きを見る
|
