{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pyle A"],"funding":["European Research Council","Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["e6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4821083"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["1(1)"],"pubmed_abstract":["<h4>Objective</h4>In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease.<h4>Methods</h4>The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing.<h4>Results</h4>Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis.<h4>Conclusions</h4>Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation."],"journal":["Neurology. Genetics"],"pubmed_title":["Respiratory chain deficiency in nonmitochondrial disease."],"pmcid":["PMC4821083"],"funding_grant_id":["MC_UP_1501/2","NF-SI-0514-10016","MC_PC_13071","101876/B/13/Z","309548"],"pubmed_authors":["Cuk M","Feder L","Kratz M","Chinnery PF","Nightingale HJ","Griffin H","Abicht A","Santibanez-Koref M","Karcagi V","Horvath R","Baric I","Holinski-Feder E","Czermin B","Douroudis K","Kleinle S","Pyle A","Kirschner J"],"additional_accession":[]},"is_claimable":false,"name":"Respiratory chain deficiency in nonmitochondrial disease.","description":"<h4>Objective</h4>In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease.<h4>Methods</h4>The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing.<h4>Results</h4>Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis.<h4>Conclusions</h4>Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Jun","modification":"2025-04-26T02:16:44.58Z","creation":"2019-03-27T03:11:13Z"},"accession":"S-EPMC4821083","cross_references":{"pubmed":["27066545"],"doi":["10.1212/NXG.0000000000000006"]}}