Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up
病例报告:一名年轻女孩患有严重的致心律失常性心肌病,其携带DSG2和MYBPC3复合杂合变异,并进行了6年随访。
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1545561
Hashizume, Ryotaro; Imai, Hiroshi; Ohashi, Hiroyuki; Sawada, Hirofumi; Yodoya, Noriko; Okamoto, Ryuji; Dohi, Kaoru; Kasai, Chika; Kitajima, Takahito; Fujiwara, Takumi; Mochiki, Ikuyo; Nakatani, Kaname; Wakita, Sachiko; Ohno, Seiko; Kato, Koichi; Okugawa, Yoshinaga; Mitani, Yoshihide; Hirayama, Masahiro