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September 10, 2025American Journal of Medical Genetics Part A

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO

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Authors

ZMZainab Al MasseriLGLaura GuilderMIMichal Inbar‐Feigenberg

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Overview

Case report identifies a homozygous splice variant in atp5po leading to isolated mitochondrial deficiency, implying genetic links.

Key Points

  • The patient had isolated mitochondrial complex V deficiency associated with a homozygous splice variant in ATP5PO.
  • Whole-exome sequencing revealed a splice variant in ATP5PO, suggesting a potential genetic cause for her condition.
  • Mitochondrial respiratory chain analysis showed about 35% enzyme activity in fibroblasts compared to controls.
  • The results support ATP5PO's role in complex V assembly, highlighting the need for further genetic understanding.

Cite This Study

Masseri et al. (2025) studied this question.

synapsesocial.com/papers/68c23caeb210217d6478a55bhttps://doi.org/10.1002/ajmg.a.64239
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