biostudies-literatureUnknown15(6)Bayrak H<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 previouMolecular syndromology487-494https://www.ebi.ac.uk/biostudies/studies/S-EPMC11614435biostudies-literature&lt;i&gt;RMND1&lt;/i&gt; Mutation Case Report and Literature Review.PMC11614435Bayrak HKılıc MSezer Afalse&lt;i&gt;RMND1&lt;/i&gt; Mutation Case Report and Literature Review.<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 previou2024-01-01T00:00:00Z2024 Dec2026-06-01T15:36:11.741Z2026-04-08T13:36:54.419ZS-EPMC116144353963424810.1159/000538930