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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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Autors principals: Kawamata, Hibiki, Tiranti, Valeria, Magrané, Jordi, Chinopoulos, Christos, Manfredi, Giovanni
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2011
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Accés en línia: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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