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Accumulation of muscle fiber myotilin

MedGen UID:
868179
•Concept ID:
C4022571
•
Anatomical Abnormality
Synonym: Accumulation of muscle fibre myotilin
 
HPO: HP:0030227

Definition

Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAccumulation of muscle fiber myotilin

Recent clinical studies

Etiology

Myofibrillar myopathies.
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
Molecular pathology of myofibrillar myopathies.
Ferrer I, Olivé M
Expert Rev Mol Med 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. PMID: 18764962
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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
Electron microscopy in neuromuscular disorders.
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
Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities.
Guglieri M, Magri F, Comi GP
Clin Chim Acta 2005 Nov;361(1-2):54-79. doi: 10.1016/j.cccn.2005.05.020. PMID: 16002060

Diagnosis

Novel TRIM32 mutation in sarcotubular myopathy.
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
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO
Brain 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200. PMID: 22961544Free PMC Article
Myofibrillar myopathies.
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
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK
J Neuropathol Exp Neurol 2009 Jun;68(6):701-7. doi: 10.1097/NEN.0b013e3181a7f703. PMID: 19458539
Electron microscopy in neuromuscular disorders.
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

Prognosis

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy.
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

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO
Brain 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200. PMID: 22961544Free PMC Article
In vivo characterization of mutant myotilins.
Keduka E, Hayashi YK, Shalaby S, Mitsuhashi H, Noguchi S, Nonaka I, Nishino I
Am J Pathol 2012 Apr;180(4):1570-80. Epub 2012 Feb 18 doi: 10.1016/j.ajpath.2011.12.040. PMID: 22349301
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK
J Neuropathol Exp Neurol 2009 Jun;68(6):701-7. doi: 10.1097/NEN.0b013e3181a7f703. PMID: 19458539
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.
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
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy.
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

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