Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
TAMM41基因的双等位基因变异与肌肉中心磷脂水平低下相关，进而导致新生儿线粒体疾病。
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2022.100097
Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Inês A; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G; Wever, Eric J M; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten G; Chao, Katherine R; Cai, Chunyu; Iannaccone, Susan T; Dean, Andrew F; McFarland, Robert; Vaz, Frédéric M; Delahodde, Agnès; Taylor, Robert W; Rötig, Agnès
