NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

With over 1,000 nuclear genes that could potentially cause a mitochondrial disorder, the current diagnostic approach requires targeted molecular analysis, guided by a combination of clinical and biochemical features. However, the expanding molecular and clinical spectrum means that this approach doe...

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Bibliographische Detailangaben
Hauptverfasser: Marina, Adela Della, Schara, Ulrike, Pyle, Angela, Möller-Hartmann, Claudia, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, Griffin, Helen, Santibanez-Koref, Mauro, Chinnery, Patrick F., Horvath, Rita
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755572/
https://ncbi.nlm.nih.gov/pubmed/23430795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_195
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