Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

<h4>Objective</h4> <p>Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitochondrial disease an...

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Bibliographic Details
Main Authors:	Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, I, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, JW, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RDS
Format:	Journal article
Language:	English
Published:	American Academy of Neurology 2017

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

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