Letter to the Editor
Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population

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  • Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

    2020, Revista Portuguesa de Cardiologia
    Citation Excerpt :

    As shown by several studies, TCAP mutations identified in cardiomyopathy patients are distributed over the whole gene/protein10,31,33–38 (Figure 2A) and the differentiation between true pathogenic mutations and benign polymorphisms is challenging. One example is the in-frame deletion p.Glu13del initially described by Bos et al. as pathogenic,31 which we and many others have shown is benign because of its frequency.14,39 This was subsequently confirmed by a now publicly available resource, the ExAC database, showing a MAF of 0.00095 for this variant (115 found alleles out of 95 905 alleles analyzed in total).

  • The role of z-disc proteins in myopathy and cardiomyopathy

    2021, International Journal of Molecular Sciences
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