@article{BrodehlPourHakimiStanasiuketal.2019, author = {Andreas Brodehl and Seyed Ahmad Pour Hakimi and Caroline Stanasiuk and Sandra Ratnavadivel and Doris Hendig and Anna Gaertner and Brenda Gerull and Jan Gummert and Lech Paluszkiewicz and Hendrik Milting}, title = {Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect}, journal = {Genes}, volume = {10}, number = {11}, doi = {10.3390/genes10110918}, year = {2019}, }