Biallelic Variants in TAMM41 Are Associated with Low Muscle Cardiolipin Levels, Leading to Neonatal Mitochondrial Disease.
Kyle Thompson,Lucas Bianchi,Francesca Rastelli,Florence Piron-Prunier,Sophie Ayciriex,Claude Besmond,Laurence Hubert,Magalie Barth,Ines A. Barbosa,Charu Deshpande,Manali Chitre,Sarju G. Mehta,Eric J. M. Wever,Pascale Marcorelles,Sandra Donkervoort, Dimah Saade,Carsten G. Bonnemann,Katherine R. Chao,Chunyu Cai,Susan T. Iannaccone,Andrew F. Dean,Robert McFarland,Frederic M. Vaz,Agnes Delahodde,Robert W. Taylor,Agnes Rotig Human Genetics and Genomics advances（2022）
关键词
cardiolipin,mitochondria,mitochondrial disease,WES/WGS,OXPHOS defect,mitochondrial phospholipid
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