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Article

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.

Human molecular genetics - 1 Aug 2011

Kawamata Hibiki, Tiranti Valeria, Magrané Jordi, Chinopoulos Christos, Manfredi Giovanni

Abstract excerpt

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 mitochondrial myopathy caused by ANT1 mutations remain largely unknown. In yeast, expression of ANT1 carrying mutations...

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Identifiers

PMID: 21586654
DOI: 10.1093/hmg/ddr200
PMCID: PMC3131042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.PMID 21586654Read ↗

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