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17720647,9697706,10717012,17325244,12673789,14724127,11561226,11412718,17439987,19105189,11668632,14991347,17199740,10508519,16865695,12766977,16806931,11052860,16009553,16585054,20133133,16684602,9731540,16380616,16483541,14711882,18055494,15050448,19687455,23687351,15800015,15495235,20571991,17434305,8114783,12557291,12486434,15947064,20718792,12609507,15833432,20227276,15564037,26724190,17221859,18035086,15668942,15501438,11310634,10844369,11412147,12669240,20696008,12365725,23036309,15699387,19728970,17418574,15883335,15770669,15728284,12410397,16761416,15759133,16217025,20171888,16288872,18261911,9146065,11061256,11515275,10905661,20303757,12666119,22784669,11073539,15475165,17698502,16458928,19138847,17525139,29274115,14681890,18061454,14648196,16828798,16624558,20064724,29212896,19697367,19084400,19879535,22068470,17715288,23590293,16247757,10430757,15741996,16314145,16684601,25394388,7747013,15318349,17405141,10545598,16984901,3605207,16789403,16890305,20376763,22577218,16427282,23169582,16793270,16981056,19056269,22234203,19773168,18564364,29167554,25557463,15210162,15080529,15792868,18952067,15336686,17188893,27633507,19493611,19567699,15548556,18343114,8565338,17190868,19458539,17454124,18467357,20637616,16217705,25666907,19932619,18337098,19679850,30908796,18006477,3360147,16959509,15857933,19344917,31024060,9199955,18657972,17376686,17221878,32815318,18948003,26205529,1013570,23446887,20417099,19345583,10972294,16640643,16945537,17626518,17886299,15078418,18503509,23051780,20554445,7919971,19716701,16084088,31489791,17676042,16519886,11578132,28171858,19181099,19253808,17635637,8004844,23329710,1283202,19181672,22215463,32142595,18595698,9608560,32105824,12620971,22006699,17132147,16924011,17200493,9354004,24953931,26545904,8922062,10686494,17548557,24170373,24836204,15943164,17157023,16317594,16372318,12031619,22749474,17098358,16288875,25449070,12595850,6543897,15122708,23365102,8289434,14564412,17010801,22153487,23146629,20654101,9712432,28523323,7672786,19005210,7676812,9270668,19259135,17134899,15590364,30488450,21920752,15477095,23815709,9324599,21294420,9673982,16376610,11310621,8509778,18539904,16447767,17383184,17068785,16227997,33478057,29143313,17224570,16010068,14593638,11728149,7964869,34106405,16674719,9330890,8792816,16084085,17273782,31718026,12013894,11102975,10211476,3813461,23044792,23300193,21041087,11298680,10970245,22386993,23606733,27393313,33373648,1364224,17393175,17705262,17226826,11157732,12815605,15676184,16967490,26255073,15907287,6687359,17657808,9120483,16531045,15996213,24441330,17534945,25541946,25358400,8739954,11079538,2295510,23486992,17434307,33823640,35898174,16288675,19492423,23279333,15482963,25680090,17873513,17899313,17244376,25956450,10563745,17143889,20448486,17049137,16919903,26097489,22484823,26431784,11218703,25216331,36555543,9502648,25529940,3352914,34366191,12181975,9829275,16258946,15668980,29422440,23798481,31794073,16901453,15159477,30372688,32102154,29342313,23127960,19344878,8140891,17438628,17213838,22164436,23768946,27460346,7407023,2729361,34289528,15786415,30900782,8938703,14663035,15572040,9631395,22371254,9883834,10545044,23911073,15733906,17606885,28258942,30666435,28341603,7881296,18060779,31025394,29779757,17349161,35958417,17438622,17438604,32037607,15452313,15822551,29260357,21842594,19433360,11745958,17509566,21135393,2226571,35370044,15520409,15832616,36641683,11412717,3188494,16672573,23064629,10662742,21753180,30097466,3508353,15314133,9777244,24636144,27490141,15781433,31998224,9196901,7739644,9121497,21104870,26136523,27348394,31455395,28732691,11555986,12529714,33413275,37082475,33846077,262021,26922712,15699411,16847006,8866439,11004158,17516458,29766954,30918256,32893996,14581388,11547948,35597757,75955,32235386,11052851,28411587,9447609,27066560,16449718,26600210,7125507,2376753,3225629,30253894,11596377,11555983,17296297,20739820,10407787,3345455,2909155,10417796,15111657,31859631,31074871,34935254,17235117,35858767,17368390,33751823,28703267,7209736,36683559,36726751,31636600,16723230,34167170,5892870,31049239,17562947,32535249,7452016,24300784,35510679,24295814,34471957,28189650,18650983,5429002,29679098,36262206,4759082,16117037,26258744,26345447,6399694,13113064,21135394,21611303,35507709[uid]

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Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP. Bergman JE, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. doi: 10.1016/j.ejmg.2007.06.003. Epub 2007 Jul 15. Eur J Med Genet. 2007. PMID: 17720647

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Goldfarb LG, et al. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Dalakas MC, et al. N Engl J Med. 2000 Mar 16;342(11):770-80. doi: 10.1056/NEJM200003163421104. N Engl J Med. 2000. PMID: 10717012 Free article.

Prevalence of desmin mutations in dilated cardiomyopathy.

Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank. Taylor MR, et al. Circulation. 2007 Mar 13;115(10):1244-51. doi: 10.1161/CIRCULATIONAHA.106.646778. Epub 2007 Feb 26. Circulation. 2007. PMID: 17325244

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M. Charniot JC, et al. Hum Mutat. 2003 May;21(5):473-81. doi: 10.1002/humu.10170. Hum Mutat. 2003. PMID: 12673789

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Goldfarb LG, et al. Brain. 2004 Apr;127(Pt 4):723-34. doi: 10.1093/brain/awh033. Epub 2004 Jan 14. Brain. 2004. PMID: 14724127 Review.

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE. Jakobs PM, et al. J Card Fail. 2001 Sep;7(3):249-56. doi: 10.1054/jcaf.2001.26339. J Card Fail. 2001. PMID: 11561226

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].

Pou Serradell A, Lloreta Trull J, Corominas Torres J, Guicheney P. Pou Serradell A, et al. Neurologia. 2001 May;16(5):195-203. Neurologia. 2001. PMID: 11412718 Spanish.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H. Walter MC, et al. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R. Clemen CS, et al. Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941. Hum Mutat. 2009. PMID: 19105189

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