Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation

Koh Tadokoro, Yasuyuki Ohta, Ryo Sasaki, Yoshiaki Takahashi, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Kazufumi Nakamura, Ichizo Nishino, Koji Abe

Research output: Contribution to journalLetter

Original languageEnglish
Pages (from-to)142-144
Number of pages3
JournalJournal of the Neurological Sciences
Volume393
DOIs
Publication statusPublished - Oct 15 2018

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Congenital Structural Myopathies
Dilated Cardiomyopathy
Mutation

Keywords

  • ACTA1
  • Congenital fiber-type disproportion
  • Dilated cardiomyopathy
  • p.G48A

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

@article{3d94a8debeb044d6be7f08a0a5f69a40,
title = "Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation",
keywords = "ACTA1, Congenital fiber-type disproportion, Dilated cardiomyopathy, p.G48A",
author = "Koh Tadokoro and Yasuyuki Ohta and Ryo Sasaki and Yoshiaki Takahashi and Kota Sato and Jingwei Shang and Mami Takemoto and Nozomi Hishikawa and Toru Yamashita and Kazufumi Nakamura and Ichizo Nishino and Koji Abe",
year = "2018",
month = "10",
day = "15",
doi = "10.1016/j.jns.2018.08.015",
language = "English",
volume = "393",
pages = "142--144",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

TY - JOUR

T1 - Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation

AU - Tadokoro, Koh

AU - Ohta, Yasuyuki

AU - Sasaki, Ryo

AU - Takahashi, Yoshiaki

AU - Sato, Kota

AU - Shang, Jingwei

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Yamashita, Toru

AU - Nakamura, Kazufumi

AU - Nishino, Ichizo

AU - Abe, Koji

PY - 2018/10/15

Y1 - 2018/10/15

KW - ACTA1

KW - Congenital fiber-type disproportion

KW - Dilated cardiomyopathy

KW - p.G48A

UR - http://www.scopus.com/inward/record.url?scp=85052887555&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85052887555&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2018.08.015

DO - 10.1016/j.jns.2018.08.015

M3 - Letter

VL - 393

SP - 142

EP - 144

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -