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Abnormal muscle fiber desmin

MedGen UID:
868181
Concept ID:
C4022573
Anatomical Abnormality
Synonym: Abnormal muscle fibre desmin
 
HPO: HP:0030224

Definition

A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein. [from HPO]

Recent clinical studies

Etiology

Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Arena S, Iacona R, Impellizzeri P, Russo T, Marseglia L, Gitto E, Romeo C
Ital J Pediatr 2016 Nov 29;42(1):103. doi: 10.1186/s13052-016-0316-x. PMID: 27899160Free PMC Article
Selcen D
Neuromuscul Disord 2011 Mar;21(3):161-71. Epub 2011 Jan 20 doi: 10.1016/j.nmd.2010.12.007. PMID: 21256014Free PMC Article
Ferrer I, Olivé M
Expert Rev Mol Med 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. PMID: 18764962
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944

Diagnosis

Marini M, Guglielmi V, Faulkner G, Piffer S, Tomelleri G, Vattemi G
Electrophoresis 2015 Dec;36(24):3097-100. Epub 2015 Oct 20 doi: 10.1002/elps.201500277. PMID: 26383991
Selcen D
Neuromuscul Disord 2011 Mar;21(3):161-71. Epub 2011 Jan 20 doi: 10.1016/j.nmd.2010.12.007. PMID: 21256014Free PMC Article
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC
Brain 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14 doi: 10.1093/brain/awh033. PMID: 14724127
Sarnat HB
Neurology 1992 Aug;42(8):1616-24. doi: 10.1212/wnl.42.8.1616. PMID: 1641160

Therapy

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K
J Proteomics 2013 Sep 2;90:14-27. Epub 2013 Apr 30 doi: 10.1016/j.jprot.2013.04.026. PMID: 23639843Free PMC Article
Helliwell TR, Wilkinson A, Griffiths RD, McClelland P, Palmer TE, Bone JM
Neuropathol Appl Neurobiol 1998 Dec;24(6):507-17. doi: 10.1046/j.1365-2990.1998.00144.x. PMID: 9888161
Rodolico C, Toscano A, Benvenga S, Mazzeo A, Bartolone S, Bartolone L, Girlanda P, Monici MC, Migliorato A, Trimarchi F, Vita G
Thyroid 1998 Nov;8(11):1033-8. doi: 10.1089/thy.1998.8.1033. PMID: 9848719

Prognosis

Bosoteanu M, Vodă RI, Orasanu CI, Aschie M, Enciu M, Baltatescu GI
Am J Case Rep 2022 Jan 19;23:e934913. doi: 10.12659/AJCR.934913. PMID: 35042839Free PMC Article
Shelly S, Talha N, Pereira NL, Engel AG, Johnson JN, Selcen D
Neurology 2021 Sep 14;97(11):e1150-e1158. Epub 2021 Jul 27 doi: 10.1212/WNL.0000000000012542. PMID: 34315782
Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C
PLoS One 2014;9(12):e115470. Epub 2014 Dec 26 doi: 10.1371/journal.pone.0115470. PMID: 25541946Free PMC Article
Tasli F, Vardar E, Argon A, Kabat T, Deniz S, Nart A, Kececi Y
Pol J Pathol 2014 Jun;65(2):120-4. doi: 10.5114/pjp.2014.43961. PMID: 25119171
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M
Brain 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. PMID: 18055494

Clinical prediction guides

Stål P, Nord H, von Hofsten J, Holmlund T, Shah F
Eur J Med Res 2024 Apr 3;29(1):216. doi: 10.1186/s40001-024-01812-9. PMID: 38566246Free PMC Article
Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C
PLoS One 2014;9(12):e115470. Epub 2014 Dec 26 doi: 10.1371/journal.pone.0115470. PMID: 25541946Free PMC Article
Tasli F, Vardar E, Argon A, Kabat T, Deniz S, Nart A, Kececi Y
Pol J Pathol 2014 Jun;65(2):120-4. doi: 10.5114/pjp.2014.43961. PMID: 25119171
Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774
Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA
J Neuropathol Exp Neurol 1996 May;55(5):549-62. doi: 10.1097/00005072-199605000-00008. PMID: 8627346

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