Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism

Y. Ohnuki; K. Takahashi; E. Iijima; W. Takahashi; S. Suzuki; Y. Ozaki; R. Kitao; M. Mihara; T. Ishihara; M. Nakamura; Y. Sawano; Y. Goto; S. Izumi; Jerzy Kulski; T. Shiina; S. Takizawa

doi:10.2169/internalmedicine.53.1320

Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism

Y. Ohnuki, K. Takahashi, E. Iijima, W. Takahashi, S. Suzuki, Y. Ozaki, R. Kitao, M. Mihara, T. Ishihara, M. Nakamura, Y. Sawano, Y. Goto, S. Izumi, Jerzy Kulski, T. Shiina, S. Takizawa

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

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. © 2014 The Japanese Society of Internal Medicine.

Original language	English
Pages (from-to)	1365-1369
Journal	Internal Medicine
Volume	53
Issue number	12
DOIs	https://doi.org/10.2169/internalmedicine.53.1320
Publication status	Published - 2014

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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, J., Shiina, T., & Takizawa, S. (2014). Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. Internal Medicine, 53(12), 1365-1369. https://doi.org/10.2169/internalmedicine.53.1320

@article{d5f6fb6e58554b1cba257d39cf632002,

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. {\textcopyright} 2014 The Japanese Society of Internal Medicine.",

author = "Y. Ohnuki and K. Takahashi and E. Iijima and W. Takahashi and S. Suzuki and Y. Ozaki and R. Kitao and M. Mihara and T. Ishihara and M. Nakamura and Y. Sawano and Y. Goto and S. Izumi and Jerzy Kulski and T. Shiina and S. Takizawa",

year = "2014",

doi = "10.2169/internalmedicine.53.1320",

language = "English",

volume = "53",

pages = "1365--1369",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

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}

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, J, Shiina, T & Takizawa, S 2014, 'Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism', Internal Medicine, vol. 53, no. 12, pp. 1365-1369. https://doi.org/10.2169/internalmedicine.53.1320

TY - JOUR

T1 - Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism

AU - Ohnuki, Y.

AU - Takahashi, K.

AU - Iijima, E.

AU - Takahashi, W.

AU - Suzuki, S.

AU - Ozaki, Y.

AU - Kitao, R.

AU - Mihara, M.

AU - Ishihara, T.

AU - Nakamura, M.

AU - Sawano, Y.

AU - Goto, Y.

AU - Izumi, S.

AU - Kulski, Jerzy

AU - Shiina, T.

AU - Takizawa, S.

PY - 2014

Y1 - 2014

N2 - 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. © 2014 The Japanese Society of Internal Medicine.

AB - 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. © 2014 The Japanese Society of Internal Medicine.

U2 - 10.2169/internalmedicine.53.1320

DO - 10.2169/internalmedicine.53.1320

M3 - Article

SN - 0918-2918

VL - 53

SP - 1365

EP - 1369

JO - Internal Medicine

JF - Internal Medicine

IS - 12

ER -

Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism

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