Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions

OBJECTIVE: Mutations in nuclear-encoded mitochondrial DNA (mtDNA) polymerase (POLG) are known to cause autosomal dominant chronic progressive external ophthalmoplegia (adCPEO) with accumulation of multiple mtDNA deletions in muscles. However, no animal model with a heterozygous Polg mutation represe...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Fuke, Satoshi, Kametani, Mizue, Yamada, Kazuyuki, Kasahara, Takaoki, Kubota-Sakashita, Mie, Kujoth, Gregory C, Prolla, Tomas A, Hitoshi, Seiji, Kato, Tadafumi
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2014
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Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4265062/
https://ncbi.nlm.nih.gov/pubmed/25540805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.133
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