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Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
BACKGROUND: Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It can result from inherited or sporadic mutations in either the mitochondrial or the nuclear genome, many of which affect intraorganellar gene expression. The estimated prev...
Autores principales: | Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Robert W., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240610/ https://www.ncbi.nlm.nih.gov/pubmed/27858754 http://dx.doi.org/10.3233/JND-150121 |
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