Article
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
Mitochondrion - 1 Mar 2021
Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E Y
Abstract excerpt
Currently, pathogenic variants in more than 25 nuclear genes, involved in mtDNA maintenance, are associated with human disorders. mtDNA maintenance disorders manifest with a wide range of phenotypes, from severe infantile-onset forms of myocerebrohepatopathy to late-onset forms of myopathies, chronic progressive external ophthalmoplegia, and parkinsonism. This study represents the results of molecular genetic...
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