The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43. Al...
Published in: | European Heart Journal |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
2014
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Subjects: | |
Online Access: | https://pure.au.dk/portal/da/publications/the-tmem43-newfoundland-mutation-ps358l-causing-arvc5-was-imported-from-europe-and-increases-the-stiffness-of-the-cell-nucleus(210586ed-c664-47fa-9fc9-5de472a1b93a).html https://doi.org/10.1093/eurheartj/ehu077 |
Summary: | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43. Although TMEM43-p.S358L mutation carriers were also found in the USA, Germany, and Denmark, the genetic relationship between North American and European patients and the disease mechanism of this mutation remained to be clarified. |
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