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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtDNA deletion disorders. Here we show that mutation of MPV17 – a gene implicated in severe, infantile hepatocere...

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Bibliografske podrobnosti
Main Authors: Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Format: Artigo
Jezik:Inglês
Izdano: Pergamon Press 2012
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3387382/
https://ncbi.nlm.nih.gov/pubmed/22508010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.03.006
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