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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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Autores principales: Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Pergamon Press 2012
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Acceso en línea: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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