{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(6)"],"submitter":["Bayrak H"],"pubmed_abstract":["<h4>Introduction</h4>Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation. The protein required for meiotic nuclear division 1 homolog (RMND1) is localized to the inner mitochondrial membrane and is encoded by the nuclear genome.<h4>Case presentation</h4>We report a new patient from a consanguineous family who was severely affected by a previously described combined oxidative phosphorylation deficiency 11 and was treated rapidly due to early diagnosis.<h4>Methods</h4>We also included patients with RMND1 mutation in the literature. We analyzed the epidemiological, clinical, laboratory, and genetic data of a total of 49 patients (98 alleles) in the literature, including our patient. We summarized all previou"],"journal":["Molecular syndromology"],"pagination":["487-494"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11614435"],"repository":["biostudies-literature"],"pubmed_title":["&lt;i&gt;RMND1&lt;/i&gt; Mutation Case Report and Literature Review."],"pmcid":["PMC11614435"],"pubmed_authors":["Bayrak H","Kılıc M","Sezer A"],"additional_accession":[]},"is_claimable":false,"name":"&lt;i&gt;RMND1&lt;/i&gt; Mutation Case Report and Literature Review.","description":"<h4>Introduction</h4>Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation. The protein required for meiotic nuclear division 1 homolog (RMND1) is localized to the inner mitochondrial membrane and is encoded by the nuclear genome.<h4>Case presentation</h4>We report a new patient from a consanguineous family who was severely affected by a previously described combined oxidative phosphorylation deficiency 11 and was treated rapidly due to early diagnosis.<h4>Methods</h4>We also included patients with RMND1 mutation in the literature. We analyzed the epidemiological, clinical, laboratory, and genetic data of a total of 49 patients (98 alleles) in the literature, including our patient. We summarized all previou","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-01T15:36:11.741Z","creation":"2026-04-08T13:36:54.419Z"},"accession":"S-EPMC11614435","cross_references":{"pubmed":["39634248"],"doi":["10.1159/000538930"]}}