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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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Autors principals: Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Format: Artigo
Idioma:Inglês
Publicat: Pergamon Press 2012
Matèries:
Accés en línia: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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