著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI) Komaki Shogo and Kubota Akatsuki and Katsuse Kazuto and Kitamura Asuka and Maeda Meiko and Matsukawa Takashi and Eura Nobuyuki and Saito Yoshihiko and Nishino Ichizo and Toda Tatsushi,A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3,Internal Medicine,0918-2918,一般社団法人 日本内科学会,2024,advpub,0,,https://cir.nii.ac.jp/crid/1390018042789190912,https://doi.org/10.2169/internalmedicine.3435-23