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MtDNA-maintenance defects: syndromes and genes

A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors...

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Bibliografske podrobnosti
izdano v:J Inherit Metab Dis
Main Authors: Viscomi, Carlo, Zeviani, Massimo
Format: Artigo
Jezik:Inglês
Izdano: Springer Netherlands 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5500664/
https://ncbi.nlm.nih.gov/pubmed/28324239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0027-5
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