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adPEO mutations in ANT1 impair ADP–ATP translocation in muscle mitochondria
Mutations in the heart and muscle isoform of adenine nucleotide translocator 1 (ANT1) are associated with autosomal-dominant progressive external opthalmoplegia (adPEO) clinically characterized by exercise intolerance, ptosis and muscle weakness. The pathogenic mechanisms underlying the mitochondria...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3131042/ https://ncbi.nlm.nih.gov/pubmed/21586654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr200 |
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