Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

Mutations of FBXL4, which encodes an orphan mitochondrial F-box protein, are a recently identified cause of encephalomyopathic mtDNA depletion. Here, we describe the detailed clinical and biochemical phenotype of a neonate presenting with hyperlactatemia, leukoencephalopathy, arrhythmias, pulmonary...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Antoun, Ghadi, McBride, Skye, Vanstone, Jason R., Naas, Turaya, Michaud, Jean, Redpath, Stephanie, McMillan, Hugh J., Brophy, Jason, Daoud, Hussein, Chakraborty, Pranesh, Dyment, David, Holcik, Martin, Harper, Mary-Ellen, Lines, Matthew A.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580732/
https://ncbi.nlm.nih.gov/pubmed/26404457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_491
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