Literature DB >> 30195123

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

Koh Tadokoro1, Yasuyuki Ohta1, Ryo Sasaki1, Yoshiaki Takahashi1, Kota Sato1, Jingwei Shang1, Mami Takemoto1, Nozomi Hishikawa1, Toru Yamashita1, Kazufumi Nakamura2, Ichizo Nishino3, Koji Abe4.   

Abstract

Entities:  

Keywords:  ACTA1; Congenital fiber-type disproportion; Dilated cardiomyopathy; p.G48A

Mesh：

Substances：

Year:  2018        PMID： 30195123     DOI： 10.1016/j.jns.2018.08.015

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  2 in total

1.  Identification of key candidate genes and pathways revealing the protective effect of liraglutide on diabetic cardiac muscle by integrated bioinformatics analysis.

Authors:  Ying Dong; Shi Yan; Guo-Yan Li; Min-Nan Wang; Lei Leng; Qiang Li
Journal:  Ann Transl Med       Date:  2020-03

2.  A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.

Authors:  Ayumi Matsumoto; Hidetoshi Tsuda; Sadahiro Furui; Masako Kawada-Nagashima; Tatsuya Anzai; Mitsuru Seki; Kazuhisa Watanabe; Kazuhiro Muramatsu; Hitoshi Osaka; Sadahiko Iwamoto; Ichizo Nishino; Takanori Yamagata
Journal:  Mol Genet Genomic Med       Date:  2022-06-27       Impact factor: 2.473
  2 in total

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