{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:16:25Z","timestamp":1792005385248,"version":"4.4.0"},"reference-count":20,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,11,23]]},"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The <jats:italic>ANT1<\/jats:italic> 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>\n                     <jats:italic>ANT1<\/jats:italic> sequencing showed that the patient was homozygous for a new nucleotide variation, c.111+1G\u2192A, abolishing the invariant GT splice donor site of intron 1. The <jats:italic>ANT1<\/jats:italic> transcript was undetectable in both muscle and skin fibroblasts. A markedly abnormal metabolic profile was found, and skeletal muscle showed a dramatic proliferation of abnormal mitochondria, increased mitochondrial mass, and multiple mitochondrial DNA deletions. No compensating increase in the transcript level of the <jats:italic>ANT3<\/jats:italic> gene, which encodes the human ubiquitous isoform of the ADP\/ATP translocase, was observed. The patient's heterozygous mother had normal clinical, biochemical and pathological features.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Complete loss of expression of the <jats:italic>ANT1<\/jats:italic> gene causes a clinical syndrome mainly characterised by cardiomyopathy and myopathy. This report expands the clinical spectrum of <jats:italic>ANT1<\/jats:italic>-related human diseases, and emphasises the crucial role of the mitochondrial ADP\/ATP carriers in muscle function and pathophysiology of human myopathies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100504","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T21:19:18Z","timestamp":1324415958000},"page":"146-150","source":"Crossref","is-referenced-by-count":76,"title":["Complete loss of expression of the <i>ANT1<\/i> gene causing cardiomyopathy and 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