Article details

Brodehl et al. Journal of Biological Chemistry 2012;287:16047-57.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES1S13Fc.38C>Tp.Ser13Phe 0/0   Mixed filaments of mutant and wild type, as well as cells with mixed filaments and aggregates were found in heterozygously transfected cells. Mutation details
DES1E114delc.340_342delGAGp.Glu114del 0/0   This mutation provides a dominant loss of the ability of wild-type desmin molecules to form filaments Mutation details
DES1N116Sc.347A>Gp.Asn116Ser 0/0   This mutation forms filaments and aggregates within the same cell Mutation details
DES6N342Dc.1024A>Gp.Asn342Asp 0/0   A dominant inhibiting effect on filament assembly was excluded Mutation details
DES8R454Wc.1360C>Tp.Arg454Trp 0/0     Mutation details