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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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: 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
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang: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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