A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

Emi Nomura, Yasuyuki Ohta, Koh Tadokoro, Kota Sato, Ryo Sasaki, Yoshiaki Takahashi, Toru Yamashita, Mami Takemoto, Nozomi Hishikawa, Yu ichi Goto, Koji Abe

Research output: Contribution to journalLetter

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)145-147
Number of pages3
JournalJournal of the neurological sciences
Volume400
DOIs
Publication statusPublished - May 15 2019

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Chronic Progressive External Ophthalmoplegia
Mitochondrial DNA

Keywords

  • CPEO
  • Homozygous
  • Mitochondrial DNA

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution. / Nomura, Emi; Ohta, Yasuyuki; Tadokoro, Koh; Sato, Kota; Sasaki, Ryo; Takahashi, Yoshiaki; Yamashita, Toru; Takemoto, Mami; Hishikawa, Nozomi; Goto, Yu ichi; Abe, Koji.

In: Journal of the neurological sciences, Vol. 400, 15.05.2019, p. 145-147.

Research output: Contribution to journalLetter

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keywords = "CPEO, Homozygous, Mitochondrial DNA",
author = "Emi Nomura and Yasuyuki Ohta and Koh Tadokoro and Kota Sato and Ryo Sasaki and Yoshiaki Takahashi and Toru Yamashita and Mami Takemoto and Nozomi Hishikawa and Goto, {Yu ichi} and Koji Abe",
year = "2019",
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T1 - A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

AU - Nomura, Emi

AU - Ohta, Yasuyuki

AU - Tadokoro, Koh

AU - Sato, Kota

AU - Sasaki, Ryo

AU - Takahashi, Yoshiaki

AU - Yamashita, Toru

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Goto, Yu ichi

AU - Abe, Koji

PY - 2019/5/15

Y1 - 2019/5/15

KW - CPEO

KW - Homozygous

KW - Mitochondrial DNA

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U2 - 10.1016/j.jns.2019.03.029

DO - 10.1016/j.jns.2019.03.029

M3 - Letter

C2 - 30951992

AN - SCOPUS:85063682313

VL - 400

SP - 145

EP - 147

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -