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RMND1 Mutation Case Report and Literature Review

Harun Bayrak1, Abdullah Sezer2, Mustafa Kılıç1

  • 1Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Molecular Syndromology
|December 5, 2024
PubMed
Summary

Mutations in the RMND1 gene cause mitochondrial disease with variable symptoms. Early diagnosis and identification of specific mutations like c.713A>G can improve outcomes and reduce mortality.

Keywords:
Combined oxidative phosphorylation deficiencyDevelopmental delayMitochondrial diseaseRMND1 geneSensorineural hearing loss

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