A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropath...

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Vydáno v:J Clin Med
Hlavní autoři: Zierz, Charlotte M., Baty, Karen, Blakely, Emma L., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Hadjivassiliou, Marios, Sarrigiannis, Ptolemaios G., Ng, Yi Shiau, Taylor, Robert W.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6617079/
https://ncbi.nlm.nih.gov/pubmed/31167410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8060789
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