| Original language | English |
|---|---|
| Pages (from-to) | 142-144 |
| Number of pages | 3 |
| Journal | Journal of the neurological sciences |
| Volume | 393 |
| DOIs | |
| Publication status | Published - Oct 15 2018 |
Keywords
- ACTA1
- Congenital fiber-type disproportion
- Dilated cardiomyopathy
- p.G48A
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
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In: Journal of the neurological sciences, Vol. 393, 15.10.2018, p. 142-144.
Research output: Contribution to journal › Letter › peer-review
}
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
N1 - Funding Information: We thank the patient for their cooperation. This work was supported by a Grant-in-Aid for Scientific Research (B) 17H0419619, (C) 15K0931607, 17H0419619 and 17K1082709, and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED) 7211700176, 7211700180 and 7211700095. This study was also supported by an Intramural Research Grant (29-4) for Neurological and Psychiatric Disorders of NCNP; AMED under Grant Numbers JP18ek0109285h0002 and JP18kk0205001s0203. Funding Information: We thank the patient for their cooperation. This work was supported by a Grant-in-Aid for Scientific Research (B) 17H0419619 , (C) 15K0931607 , 17H0419619 and 17K1082709 , and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED) 7211700176 , 7211700180 and 7211700095 . This study was also supported by an Intramural Research Grant ( 29-4 ) for Neurological and Psychiatric Disorders of NCNP; AMED under Grant Numbers JP18ek0109285h0002 and JP18kk0205001s0203 .
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
C2 - 30195123
AN - SCOPUS:85052887555
SN - 0022-510X
VL - 393
SP - 142
EP - 144
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
ER -