Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

被引：6

作者：

Ohnuki, Yuko ^{[1
,2
]}

Takahashi, Kazumi ^{[2
,3
]}

Iijima, Eri ^{[4
]}

Takahashi, Wakoh ^{[4
]}

Suzuki, Shingo ^{[1
]}

Ozaki, Yuki ^{[1
]}

Kitao, Ruriko

Mihara, Masatoshi ^{[5
]}

Ishihara, Tadayuki ^{[5
]}

Nakamura, Michiyo ^{[6
]}

Sawano, Yoshie ^{[6
]}

Goto, Yu-ichi ^{[6
]}

Izumi, Shunichiro ^{[2
,3
]}

Kulski, Jerzy K. ^{[1
,7
]}

Shiina, Takashi ^{[1
]}

Takizawa, Shunya ^{[4
]}

机构：

[1] Tokai Univ, Sch Med, Dept Mol Life Sci Basic Med Sci & Mol Med, Hiratsuka, Kanagawa 25912, Japan

[2] Tokai Univ Hosp, Dept Clin Genet, Hiratsuka, Kanagawa, Japan

[3] Tokai Univ, Sch Med, Dept Obstet & Gynecol, Hiratsuka, Kanagawa 25912, Japan

[4] Tokai Univ, Sch Med, Dept Internal Med, Div Neurol, Hiratsuka, Kanagawa 25912, Japan

[5] Natl Hakone Hosp, Dept Neurol, Odawara, Kanagawa, Japan

[6] Natl Ctr Neurol & Psychiat, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan

[7] Univ Western Australia, Ctr Forens Sci, Nedlands, WA 6009, Australia

来源：

INTERNAL MEDICINE | 2014年 / 53卷 / 12期

关键词：

mitochondrial DNA (mtDNA); multiple deletion; progressive external ophthalmoplegia (PEO); hypogonadism; leukoencephalopathy; MUTATIONS;

D O I：

10.2169/internalmedicine.53.1320

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1365 / 1369

页数：5

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