Recurrent and founder mutations in the netherlands: Mutation p.k217del in troponin t2, causing dilated cardiomyopathy
Background. About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del). Methods. We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation w... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2010 |
Schlagwörter: | Cardiomyopathy / Dilated / Genetics / Troponin t |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26833099 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/81194 |