Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism
Yuko OhnukiKazumi TakahashiEri IijimaWakoh TakahashiShingo SuzukiYuki OzakiRuriko KitaoMasatoshi MiharaTadayuki IshiharaMichiyo NakamuraYoshie SawanoYu-ichi GotoShunichiro IzumiJerzy K. KulskiTakashi ShiinaShunya Takizawa
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JOURNAL OPEN ACCESS

2014 Volume 53 Issue 12 Pages 1365-1369

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Abstract

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.

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© 2014 by The Japanese Society of Internal Medicine
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