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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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Autors principals: Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2013
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Accés en línia: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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