title: Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism.
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.
authors.affiliation: Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Ohnuki
authors.forename: Kazumi
authors.initials: K
authors.lastname: Takahashi
authors.forename: Eri
authors.initials: E
authors.lastname: Iijima
authors.forename: Wakoh
authors.initials: W
authors.lastname: Takahashi
authors.forename: Shingo
authors.initials: S
authors.lastname: Suzuki
authors.forename: Yuki
authors.initials: Y
authors.lastname: Ozaki
authors.forename: Ruriko
authors.initials: R
authors.lastname: Kitao
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Mihara
authors.forename: Tadayuki
authors.initials: T
authors.lastname: Ishihara
authors.forename: Michiyo
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yoshie
authors.initials: Y
authors.lastname: Sawano
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Izumi
authors.forename: Jerzy K
authors.initials: JK
authors.lastname: Kulski
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiina
authors.forename: Shunya
authors.initials: S
authors.lastname: Takizawa
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000175:diagnosis; D056784:Leukoencephalopathies / Q000150:complications* / Q000175:diagnosis; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial