RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in m...

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Publicat a:Eur J Hum Genet
Autors principals: Janer, Alexandre, van Karnebeek, Clara DM, Sasarman, Florin, Antonicka, Hana, Al Ghamdi, Malak, Shyr, Casper, Dunbar, Mary, Stockler-Ispiroglu, Sylvia, Ross, Colin J, Vallance, Hilary, Dionne, Janis, Wasserman, Wyeth W, Shoubridge, Eric A
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4592087/
https://ncbi.nlm.nih.gov/pubmed/25604853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.293
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