{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Thompson K"],"funding":["NHGRI NIH HHS","Wellcome Trust"],"pagination":["100097"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8935507"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["3(2)"],"pubmed_abstract":["Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. <i>TAMM41</i> encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase activity: an essential early step in the biosynthesis of phosphatidylglycerol and cardiolipin. Cardiolipin is a mitochondria-specific phospholipid that is important for many mitochondrial processes. We report three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Whole exome and genome sequencing identified compound heterozygous variants in <i>TAMM41</i> in each proband. Western blot analysis in fibroblasts showed a mild oxidative"],"journal":["HGG advances"],"pubmed_title":["Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease."],"pmcid":["PMC8935507"],"funding_grant_id":["203105/Z/16/Z","UM1 HG008900"],"pubmed_authors":["Delahodde A","Thompson K","Piron-Prunier F","Bonnemann CG","Barth M","Rotig A","McFarland R","Marcorelles P","Hubert L","Cai C","Iannaccone ST","Rastelli F","Barbosa IA","Ayciriex S","Besmond C","Mehta SG","Deshpande C","Bianchi L","Saade D","Chitre M","Taylor RW","Chao KR","Vaz FM","Wever EJM","Donkervoort S","Dean AF"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.","description":"Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. <i>TAMM41</i> encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase activity: an essential early step in the biosynthesis of phosphatidylglycerol and cardiolipin. Cardiolipin is a mitochondria-specific phospholipid that is important for many mitochondrial processes. We report three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Whole exome and genome sequencing identified compound heterozygous variants in <i>TAMM41</i> in each proband. Western blot analysis in fibroblasts showed a mild oxidative","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-30T20:56:11.221Z","creation":"2025-04-04T10:02:04.312Z"},"accession":"S-EPMC8935507","cross_references":{"pubmed":["35321494"],"doi":["10.1016/j.xhgg.2022.100097"]}}