Article
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
Heart rhythm - 1 Nov 2009
van Tintelen J Peter, Van Gelder Isabelle C, Asimaki Angeliki, Suurmeijer Albert J H, Wiesfeld Ans C P, Jongbloed Jan D H, van den Wijngaard Arthur, Kuks Jan B M, van Spaendonck-Zwarts Karin Y, Notermans Nicolette, Boven Ludolf, van den Heuvel Freek, Veenstra-Knol Hermine E, Saffitz Jeffrey E, Hofstra Robert M W, van den Berg Maarten P
Abstract excerpt
BACKGROUND: Desmin-related myopathy is a clinically heterogenous group of disorders encompassing myopathies, cardiomyopathies, conduction disease, and combinations of these disorders. Mutations in the gene encoding desmin (DES), a major intermediate filament protein, can underlie this phenotype....
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