A recurrent homozygous ACTN2 variant associated with core myopathy

Michio Inoue; Satoru Noguchi; Kyuto Sonehara; Keiko Nakamura-Shindo; Akira Taniguchi; Hiroyuki Kajikawa; Hisayoshi Nakamura; Keiko Ishikawa; Megumu Ogawa; Shinichiro Hayashi; Yukinori Okada; Satoshi Kuru; Aritoshi Iida; Ichizo Nishino

doi:10.1007/s00401-021-02363-7

A recurrent homozygous ACTN2 variant associated with core myopathy

Michio Inoue, Satoru Noguchi, Kyuto Sonehara, Keiko Nakamura-Shindo, Akira Taniguchi, Hiroyuki Kajikawa, Hisayoshi Nakamura, Keiko Ishikawa, Megumu Ogawa, Shinichiro Hayashi, Yukinori Okada, Satoshi Kuru, Aritoshi Iida, Ichizo Nishino

Research output: Contribution to journal › Letter › peer-review

11 Scopus citations

Original language	English
Pages (from-to)	785-788
Number of pages	4
Journal	Acta Neuropathologica
Volume	142
Issue number	4
DOIs	https://doi.org/10.1007/s00401-021-02363-7
State	Published - Oct 2021
Externally published	Yes

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10.1007/s00401-021-02363-7

Cite this

@article{7cfdde47063f4564a3354cc699f761b7,

title = "A recurrent homozygous ACTN2 variant associated with core myopathy",

author = "Michio Inoue and Satoru Noguchi and Kyuto Sonehara and Keiko Nakamura-Shindo and Akira Taniguchi and Hiroyuki Kajikawa and Hisayoshi Nakamura and Keiko Ishikawa and Megumu Ogawa and Shinichiro Hayashi and Yukinori Okada and Satoshi Kuru and Aritoshi Iida and Ichizo Nishino",

note = "Funding Information: This study was partly supported by Intramural Research Grant for Neurological and Psychiatric Disorders of NCNP, under Grant Numbers 3-9 (S.N.), 2-6 (S.N.), and 2-5 (I.N., S.H., A.I.); AMED, under Grant Number, JP21ek0109490h0002 (S.N., S.H., A.I, I.N.); and Joint Usage and Joint Research Programs of the Institute of Advanced Medical Sciences, Tokushima University, Grant Number 2020, 2R19. ",

year = "2021",

month = oct,

doi = "10.1007/s00401-021-02363-7",

language = "English",

volume = "142",

pages = "785--788",

journal = "Acta Neuropathologica",

issn = "0001-6322",

publisher = "Springer Verlag",

number = "4",

}

TY - JOUR

T1 - A recurrent homozygous ACTN2 variant associated with core myopathy

AU - Inoue, Michio

AU - Noguchi, Satoru

AU - Sonehara, Kyuto

AU - Nakamura-Shindo, Keiko

AU - Taniguchi, Akira

AU - Kajikawa, Hiroyuki

AU - Nakamura, Hisayoshi

AU - Ishikawa, Keiko

AU - Ogawa, Megumu

AU - Hayashi, Shinichiro

AU - Okada, Yukinori

AU - Kuru, Satoshi

AU - Iida, Aritoshi

AU - Nishino, Ichizo

N1 - Funding Information: This study was partly supported by Intramural Research Grant for Neurological and Psychiatric Disorders of NCNP, under Grant Numbers 3-9 (S.N.), 2-6 (S.N.), and 2-5 (I.N., S.H., A.I.); AMED, under Grant Number, JP21ek0109490h0002 (S.N., S.H., A.I, I.N.); and Joint Usage and Joint Research Programs of the Institute of Advanced Medical Sciences, Tokushima University, Grant Number 2020, 2R19.

PY - 2021/10

Y1 - 2021/10

UR - http://www.scopus.com/inward/record.url?scp=85114382181&partnerID=8YFLogxK

U2 - 10.1007/s00401-021-02363-7

DO - 10.1007/s00401-021-02363-7

M3 - Letter

C2 - 34471957

AN - SCOPUS:85114382181

SN - 0001-6322

VL - 142

SP - 785

EP - 788

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 4

ER -