Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
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London: BMJ Publishing Group Ltd
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Language
English
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London: BMJ Publishing Group Ltd
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BackgroundThe 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 resultsANT1 sequencing showed that the patient was homozygous for a new nucleotide variation, c....
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Full title
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
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TN_cdi_proquest_miscellaneous_916149048
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_916149048
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2011-100504
