LETTER TO THE EDITOR
Liver pathology in hepato-cerebral mitochondrial depletion syndromes due to POLG1, DGUOK, 146or MPV17 variants
1
Neurological Department, Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria
Submission date: 2019-05-10
Acceptance date: 2019-06-02
Publication date: 2019-09-04
Pol J Pathol 2019;70(2):146-147
TOPICS
REFERENCES (7)
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Pronicki M, Piekutowska-Abramczuk D, Rokicki D, et al. Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis. Pol J Pathol 2018; 69: 292-298.
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Gorman GS, Taylor RW. RRM2B-Related Mitochondrial Disease. 2014 Apr 17. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from http://www.ncbi.nlm.nih.gov/bo....
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Goffart S, Cooper HM, Tyynismaa H, et al. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet 2009; 18: 328-340.
4.
Hakonen AH, Goffart S, Marjavaara S, et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA.
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Stiles AR, Simon MT, Stover A, et al. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab 2016; 119: 91-99.
7.
Finsterer J, Zarrouk Mahjoub S. Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders. Expert Opin Drug Metab Toxicol 2012; 8: 71-79.
| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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