<i>RMND1</i> Mutation Case Report and Literature Review.

ABSTRACT:

Introduction

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.

Case presentation

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.

Methods

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

SUBMITTER: Bayrak H 

PROVIDER: S-EPMC11614435 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature