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A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
Schirmer I, Dieding M, Klauke B, Brodehl A, Gaertner-Rommel A, Walhorn V, Gummert J, Schulz U, Paluszkiewicz L, Anselmetti D, Milting H. Schirmer I, et al. Among authors: gaertner rommel a. Mol Genet Genomic Med. 2018 Mar;6(2):288-293. doi: 10.1002/mgg3.358. Epub 2017 Dec 23. Mol Genet Genomic Med. 2018. PMID: 29274115 Free PMC article.
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: gaertner rommel a. Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21. Hum Mutat. 2017. PMID: 28493373
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Brodehl A, Ebbinghaus H, Gaertner-Rommel A, Stanasiuk C, Klauke B, Milting H. Brodehl A, et al. Among authors: gaertner rommel a. Genet Med. 2019 May;21(5):1246-1247. doi: 10.1038/s41436-018-0291-2. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262925 Free article. No abstract available.
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H. Klauke B, et al. Among authors: gaertner rommel a. PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017. PLoS One. 2017. PMID: 29253866 Free PMC article.
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Gaertner-Rommel A, Tiesmeier J, Jakob T, Strickmann B, Veit G, Bachmann-Mennenga B, Paluszkiewicz L, Klingel K, Schulz U, Laser KT, Karger B, Pfeiffer H, Milting H. Gaertner-Rommel A, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e841. doi: 10.1002/mgg3.841. Epub 2019 Jul 10. Mol Genet Genomic Med. 2019. PMID: 31293105 Free PMC article.
11 results