幼児期に側弯と呼吸不全を来し成人移行に際する再評価によりSELENON関連ミオパチーと診断した33歳女性例

SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report

馬場悠輔, 前田明子 , 村松恭祐, 富永健太, 上田洲裕, 小巻奨吾, 斎藤良彦, 濱田雅, 佐竹渉, 西野一三, 戸田達史

Yusuke Baba, Meiko Maeda , Kyosuke Muramatsu, Kenta Tominaga, Kunihiro Ueda, Shogo Komaki, Yoshihiko Saito, Masashi Hamada, Wataru Satake, Ichizo Nishino, Tatsushi Toda

https://doi.org/10.5692/clinicalneurol.cn-002046

2025/01/24