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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

The Journal of Clinical Investigation

Sep 24, 2019

Valentina Del DottoValerio Carelli

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Abstract

Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion...read more

Mentioned in this Paper

Biopsy
Cytochrome C Oxidase
DNA
DNA, Mitochondrial
DNA, Single-Stranded
Fibroblasts
Gene Deletion
Kidney
Kidney Diseases
Mitochondria
5
1
3
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

The Journal of Clinical Investigation

Sep 24, 2019

Valentina Del DottoValerio Carelli

PMID: 31550240

DOI: 10.1172/jci128514

Abstract

Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion...read more

Mentioned in this Paper

Biopsy
Cytochrome C Oxidase
DNA
DNA, Mitochondrial
DNA, Single-Stranded
5
1
3

Similar Papers Found In These Feeds

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Paper Details
References
  • References59
  • Citations
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  • References59
  • Citations
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