A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin...
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.
Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutatio...
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Full title
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)
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TN_cdi_doaj_primary_oai_doaj_org_article_39c8de68ff0e4a3796f94c8498504daf
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_39c8de68ff0e4a3796f94c8498504daf
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-019-0793-z
