A recurrent homozygous ACTN2 variant associated with core myopathy

Acta Neuropathol. 2021 Oct;142(4):785-788. doi: 10.1007/s00401-021-02363-7. Epub 2021 Sep 1.

Michio Inoue^{1

2}, Satoru Noguchi^{3

4

5}, Kyuto Sonehara^{6

7}, Keiko Nakamura-Shindo⁸, Akira Taniguchi⁹, Hiroyuki Kajikawa¹⁰, Hisayoshi Nakamura², Keiko Ishikawa², Megumu Ogawa¹, Shinichiro Hayashi^{1

2}, Yukinori Okada^{6

7

11}, Satoshi Kuru¹², Aritoshi Iida², Ichizo Nishino^{1

2}

¹ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
² Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
³ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan. noguchi@ncnp.go.jp.
⁴ Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan. noguchi@ncnp.go.jp.
⁵ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan. noguchi@ncnp.go.jp.
⁶ Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan.
⁷ Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, 565-0871, Japan.
⁸ Department of Neurology, Toyama Prefectural Central Hospital, Toyama, 930-8550, Japan.
⁹ Department of Neurology, Mie University Graduate School of Medicine, Mie, 514-8507, Japan.
¹⁰ Department of Neurology, Suzuka Kaisei Hospital, Mie, 513-8505, Japan.
¹¹ Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, 565-0871, Japan.
¹² Department of Neurology, National Hospital Organization Suzuka Hospital, Mie, 513-9501, Japan.

No abstract available

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