Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.

Autor: Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands., Engelen BPH; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands., Hemel IMGM; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands., de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Jacobs EH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Sadeghi-Niaraki F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Tienen FHJ; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands., Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl.; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl., Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Dec; Vol. 29 (12), pp. 1789-1795. Date of Electronic Publication: 2021 Aug 23.