期刊
INTERNAL MEDICINE
卷 53, 期 12, 页码 1365-1369出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.53.1320
关键词
mitochondrial DNA (mtDNA); multiple deletion; progressive external ophthalmoplegia (PEO); hypogonadism; leukoencephalopathy
Progressive external ophthalmoplegia (PEO) is one of a number of major types of mitochondrial disorders. Most sporadic PEO patients have a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in the mitochondria in skeletal muscles. We herein analyzed mtDNA deletions using sub-cloning and Sanger sequencing of PCR products in a 31-year-old Japanese man with multiple symptoms, including PEO, muscle weakness, hearing loss, leukoencephalopathy and hypogonadism. A large number of multiple deletions was detected, as well as four kinds of deletion breakpoints identified in different locations, including m.3347_12322, m.5818_13964, m.5829_13964 and m.5837_13503.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据