| 1 | DES, DESM
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| Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
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| Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C.
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| PLoS One 9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014.
2014
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| 2 | DES, DESM
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| Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain.
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| Maddison P, Damian MS, Sewry C, McGorrian C, Winer JB, Odgerel Z, Shatunov A, Lee HS, Goldfarb LG.
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| Eur Neurol 68(5):279-286. [Epub ahead of print]
2012
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| 3 | DES, DESM
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| A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
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| Cao L, Hong D, Zhu M, Li X, Wan H, Hong K.
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| Clin Neuropathol lin Neuropathol. 2012 Oct 5. [Epub ahead of print]
2012
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| 4 | DES, DESM
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| Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
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| Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A.
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| Eur J Hum Genet 20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.
2012
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| 5 | DES, DESM
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| Biomechanical characterization of a desminopathy in primary human myoblasts.
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| Bonakdar N, Luczak J, Lautscham L, Czonstke M, Koch TM, Mainka A, Jungbauer T, Goldmann WH, Schröder R, Fabry B.
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| Biochem Biophys Res Commun 419(4):703-7. Epub 2012 Feb 21.
2012
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| 6 | DES, DESM
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| De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
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| Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.
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| Hum Mol Genet 19(23):4595-607. Epub 2010 Sep 9.
2010
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| 7 | DES, DESM
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| Autophagy in desmin-related cardiomyopathy: Thoughts at the halfway point.
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| Maloyan A, Robbins J.
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| Autophagy 6(5). [Epub ahead of print]
2010
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| 8 | DES, DESM
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| Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
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| Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H.
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| J Neuropathol Exp Neurol 69(4):415-24.
2010
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| 9 | DESM
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| Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
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| Sharma S, Mücke N, Katus HA, Herrmann H, Bär H.
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| J Mol Med (Berl) 87(12):1207-19. Epub 2009 Sep 8.
2009
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| 10 | DESM
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| Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
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| Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC.
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| Neuromuscul Disord 18(2):178-82. Epub 2007 Dec 3. 2008
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| 11 | CRYAB, DES, DESM
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| Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
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| Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nedellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.
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| Hum Mutat 18(5):388-96. 2001
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| 12 | DES, DESM
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| Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
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| Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.
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| N Engl J Med 342(11):770-80. 2000
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| 13 | DES, DESM
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| Linkage of hereditary distal myopathy with desmin accumulation to 2q.
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| Saavedra-Matiz CA, Chapman NH, Wijsman EM, Horowitz SH, Rosen DR.
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| Hum Hered 50(3):166-70. 2000
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| 14 | DES, DESM
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| Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
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| Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG.
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| Clin Genet 57(6):423-9. 2000
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| 15 | DES, DESM
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| A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
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| Sjoberg G, et al.
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| Hum Mol Genet 8(12):2191-2198 1999
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| 16 | DES, DESM
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| Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
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| Goldfarb LV, et al.
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| Nat Genet 19 : 402-403. 1998
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| 17 | DES, DESM
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| A dysfunctional desmin mutation in a patient with severe generalized myopathy.
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| Munoz-Marmol AM, et al.
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| Proc Natl Acad Sci U S A 95 : 11312-11317. 1998
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| 18 | DES, DESM
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| Desmin myopathy : a multisystem disorder involving skeletal, cardiac, and smooth muscle.
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| Ariza A, et al.
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| Hum Pathol 26 : 1032-1037. 1995
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