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Expanding the Clinical and Genetic Features Associated with Combined Oxidative Phosphorylation Deficiency 11 Short Title: RMND1 Overview: A case report and review of the literatures

2023-06-30

Abstract excerpt

Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a very variable phenotypic clinic. We present a new patient from a consanguineous family who was severely affected by a previously identified combined oxidative phosphorylation deficiency 11 and was treated promptly due to early diagnosis. At the 24th hour of her birth, she did not pass the cardiac pulse oximetry screen...

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Literature Corpus work: 205388ee-c7bd-54ed-bf76-c201b8fc96ae
DOI: 10.21203/rs.3.rs-3093686/v1

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