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Article

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

Journal of medical genetics - 1 Feb 2012

Echaniz-Laguna Andoni, Chassagne Maïté, Ceresuela Jennifer, Rouvet Isabelle, Padet Sylvie, Acquaviva Cécile, Nataf Serge, Vinzio Stéphane, Bozon Dominique, Mousson de Camaret Bénédicte

Abstract excerpt

BACKGROUND: The ANT1 gene, encoding ADP/ATP translocase 1, was investigated in an adult patient with an autosomal recessive mitochondrial disorder characterised by congenital cataracts, hypertrophic cardiomyopathy, myopathy and lactic acidosis. METHODS AND RESULTS: ANT1 sequencing showed that the patient was homozygous for a new nucleotide variation, c.111+1G→A, abolishing the invariant GT splice donor site of...

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Identifiers

PMID: 22187496
DOI: 10.1136/jmedgenet-2011-100504

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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