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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Detalhes bibliográficos
Main Authors: Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2013
Assuntos:
Brief Report
Acesso em linha: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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