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首页> Journal of the neurological sciences> Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.

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

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作者： Koh,Tadokoro ^[1] ; Yasuyuki,Ohta ^[1] ; Ryo,Sasaki ^[1] ; Yoshiaki,Takahashi ^[1] ; Kota,Sato ^[1] ; Jingwei,Shang ^[1] ; Mami,Takemoto ^[1] ; Nozomi,Hishikawa ^[1] ; Toru,Yamashita ^[1] ; Kazufumi,Nakamura ^[2] ; Ichizo,Nishino ^[3] ; Koji,Abe ^[4]

作者单位： Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. ^[1] Department of Cardiovascular Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. ^[2] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan. ^[3] Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address: p86m6fma@okayama-u.ac.jp. ^[4]

关键词 ACTA1 Congenital fiber-type disproportion Dilated cardiomyopathy p.G48A

主题词肌动蛋白类(Actins);心肌病, 扩张型(Cardiomyopathy, Dilated);诊断, 鉴别(Diagnosis, Differential);人类(Humans);男(雄)性(Male);突变(Mutation);先天性肌强直(Myotonia Congenita);表型(Phenotype);青年人(Young Adult)

DOI 10.1016/j.jns.2018.08.015

PMID 30195123

发布时间 2019-07-23

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Journal of the neurological sciences

142-144页

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