Desmin
Definition:
References:
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[1]. Karim Hnia, et al. Desmin in muscle and associated diseases: beyond the structural function. Cell Tissue Res. 2015 Jun;360(3):591-608. [Content Brief]
[2]. Christoph S Clemen, et al. The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol. 2015 Feb;129(2):297-315. [Content Brief]
[3]. Andreas Brodehl, et al. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. [Content Brief]
[4]. Andreas Brodehl, et al. Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect. J Mol Cell Cardiol. 2016 Feb;91:207-14. [Content Brief]