LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

@article{Hempel2017LYRM7A,
  title={LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.},
  author={Maja Hempel and Laura S. Kremer and Konstantinos Tsiakas and Bader Alhaddad and Tobias B. Haack and Ulrike L{\"o}bel and Ren{\'e} G Feichtinger and Wolfgang Sperl and Holger Prokisch and Johannes A Mayr and Ren{\'e} Santer},
  journal={Mitochondrion},
  year={2017},
  volume={37},
  pages={
          55-61
        }
}
LYRM7 is involved in the last steps of mitochondrial complex III assembly where it acts as a chaperone for the Rieske iron‑sulfur (Fe-S) protein in the mitochondrial matrix. Using exome sequencing, we identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy. Sanger sequencing showed variant segregation in similarly affected family members. Functional analyses revealed a reduced… CONTINUE READING
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