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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Detalles Bibliográficos
Autores principales: Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028993/
https://www.ncbi.nlm.nih.gov/pubmed/24014394
http://dx.doi.org/10.1002/humu.22441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028993/
https://www.ncbi.nlm.nih.gov/pubmed/24014394
http://dx.doi.org/10.1002/humu.22441

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