来自一名患有卡恩斯-塞尔综合征患者的心内膜心肌活检样本中线粒体DNA的缺失。

Deletion of mitochondrial DNA in the endomyocardial biopsy sample from a patient with Kearns-Sayre syndrome.

作者信息

Anan R, Nakagawa M, Higuchi I, Nakao S, Nomoto K, Tanaka H

机构信息

First Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.

出版信息

Eur Heart J. 1992 Dec;13(12):1718-9. doi: 10.1093/oxfordjournals.eurheartj.a060129.

DOI:10.1093/oxfordjournals.eurheartj.a060129

PMID:1289103

Abstract

A 15-year-old boy with Kearns-Sayre syndrome is reported. The deletion of mitochondrial DNA in the endomyocardial biopsy sample from the patient was confirmed by the polymerase chain reaction method, and was identified to that in the skeletal muscle.

摘要

报告了一名患有卡恩斯-塞尔综合征的15岁男孩。通过聚合酶链反应方法证实了患者心内膜心肌活检样本中线粒体DNA的缺失，并确定其与骨骼肌中的缺失相同。