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

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...

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Bibliografiske detaljer
Main Authors: Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2013
Fag:
Brief Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4028993/
https://ncbi.nlm.nih.gov/pubmed/24014394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22441
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