A recurrent homozygous ACTN2 variant associated with core myopathy.
作者信息
Inoue Michio, Noguchi Satoru, Sonehara Kyuto, Nakamura-Shindo Keiko, Taniguchi Akira, Kajikawa Hiroyuki, Nakamura Hisayoshi, Ishikawa Keiko, Ogawa Megumu, Hayashi Shinichiro, Okada Yukinori, Kuru Satoshi, Iida Aritoshi, Nishino Ichizo
机构信息
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
出版信息
Acta Neuropathol. 2021 Oct;142(4):785-788. doi: 10.1007/s00401-021-02363-7. Epub 2021 Sep 1.
Abstract
摘要
Zotero 插件