A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

@inproceedings{Invernizzi2013AHM,
  title={A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity},
  author={Federica Invernizzi and Marco Tigano and Cristina Dallabona and Claudia Donnini and Ileana Ferrero and Maurizio Cremonte and Daniele Ghezzi and Costanza Lamperti and Massimo Zeviani},
  booktitle={Human mutation},
  year={2013}
}
Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII. In a baby patient with early onset, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, we… CONTINUE READING
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