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Abnormal muscle fiber myotilin

MedGen UID:
868180
Concept ID:
C4022572
Anatomical Abnormality
Synonym: Abnormal muscle fibre myotilin
 
HPO: HP:0030226

Definition

A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein. [from HPO]

Recent clinical studies

Etiology

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
Ferrer I, Olivé M
Expert Rev Mol Med 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. PMID: 18764962
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
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

Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C
Acta Myol 2019 Mar;38(1):8-12. Epub 2019 Mar 1 PMID: 31309175Free PMC Article
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
Selcen D, Ohno K, Engel AG
Brain 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7 doi: 10.1093/brain/awh052. PMID: 14711882

Prognosis

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
Barrachina M, Moreno J, Juvés S, Moreno D, Olivé M, Ferrer I
Am J Pathol 2007 Oct;171(4):1312-23. Epub 2007 Sep 6 doi: 10.2353/ajpath.2007.070520. PMID: 17823282Free PMC Article

Clinical prediction guides

Olivé M, van Leeuwen FW, Janué A, Moreno D, Torrejón-Escribano B, Ferrer I
Neuropathol Appl Neurobiol 2008 Feb;34(1):76-87. Epub 2007 Oct 11 doi: 10.1111/j.1365-2990.2007.00864.x. PMID: 17931355
Barrachina M, Moreno J, Juvés S, Moreno D, Olivé M, Ferrer I
Am J Pathol 2007 Oct;171(4):1312-23. Epub 2007 Sep 6 doi: 10.2353/ajpath.2007.070520. PMID: 17823282Free PMC Article
Janué A, Olivé M, Ferrer I
Brain Pathol 2007 Oct;17(4):377-88. Epub 2007 Sep 4 doi: 10.1111/j.1750-3639.2007.00087.x. PMID: 17784878Free PMC Article

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