| 1 | DES, LGMD2R |
| Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. | |
| Harada H, Hayashi T, Nishi H, Kusaba K, Koga Y, Koga Y, Nonaka I, Kimura A. | |
| J Hum Genet 63(2):249-254. doi: 10.1038/s10038-017-0383-x. Epub 2017 Nov 22. 2018 | |
| 2 | DES, LGMD2R |
| 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. | |
| J Med Genet 50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18. 2013 | |