Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial disease.

ABSTRACT:

Objective

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 and establish clinically meaningful genotype-phenotype correlations.

Methods

RNASEH1 was analyzed in patients with (1) multiple deletions/depletion of muscle mtDNA and (2) mendelian progressive external ophthalmoplegia (PEO) with neuropathologic evidence of mitochondrial dysfunction, but no detectable multiple deletions/depletion of muscle mtDNA. Clinicopathologic and molecular evaluation of the newly identified and previously reported patients harboring RNASEH1 mutations was subsequently und

SUBMITTER: Bugiardini E 

PROVIDER: S-EPMC5413961 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature