PubMed (OMIM) for id: 1674

Year	Number of Results
1964	1
1965	1
1968	3
1970	1
1976	1
1980	1
1981	1
1982	1
1985	1
1989	3
1992	1
1993	4
1994	1
1995	4
1996	2
1997	1
1998	3
1999	3
2000	6
2001	2
2003	3
2004	4
2005	2
2006	1
2007	6
2008	2
2009	2
2010	2
2011	1
2012	3
2013	3
2016	1
2017	2
2018	1
2019	2
2024	0

1

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Genes (Basel). 2019 Nov 11;10(11):918. doi: 10.3390/genes10110918. Genes (Basel). 2019. PMID: 31718026 Free PMC article.

2

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.

3

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group. Straub V, et al. Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. Neuromuscul Disord. 2018. PMID: 30055862 No abstract available.

4

Restrictive cardiomyopathy due to novel desmin gene mutation.

Ojrzyńska N, Bilińska ZT, Franaszczyk M, Płoski R, Grzybowski J. Ojrzyńska N, et al. Kardiol Pol. 2017;75(7):723. doi: 10.5603/KP.2017.0129. Kardiol Pol. 2017. PMID: 28703267 Free article. No abstract available.

5

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H. Walsh R, et al. Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17. Genet Med. 2017. PMID: 27532257 Free PMC article.

6

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. Brodehl A, et al. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7. Circ Cardiovasc Genet. 2013. PMID: 24200904

7

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P. Cetin N, et al. J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18. J Med Genet. 2013. PMID: 23687351

8

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, Rybakova M, Edstrom L, Shlyakhto E, Sejersen T. Gudkova A, et al. Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7. Pediatr Cardiol. 2013. PMID: 22484823

9

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395865 Free PMC article.

10

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

Greenberg SA, Salajegheh M, Judge DP, Feldman MW, Kuncl RW, Waldon Z, Steen H, Wagner KR. Greenberg SA, et al. Ann Neurol. 2012 Jan;71(1):141-5. doi: 10.1002/ana.22649. Ann Neurol. 2012. PMID: 22275259

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