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  • Title: Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism.
    Author: Ohnuki Y, Takahashi K, Iijima E, Takahashi W, Suzuki S, Ozaki Y, Kitao R, Mihara M, Ishihara T, Nakamura M, Sawano Y, Goto Y, Izumi S, Kulski JK, Shiina T, Takizawa S.
    Journal: Intern Med; 2014; 53(12):1365-9. PubMed ID: 24930659.
    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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