COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
COQ7 缺陷导致胎儿时期出现线粒体 CoQ10 缺乏症,引发心肌病和胃肠道阻塞
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-024-01615-w
Ilaria Pettenuzzo #, Sara Carli #, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antoniett