U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Accumulation of muscle fiber desmin

MedGen UID:
866696
•Concept ID:
C4021043
•
Finding
Synonyms: Accumulation of muscle fibre desmin; Muscle fiber desmin-reactive inclusion bodies; Muscle fibre desmin-reactive inclusion bodies
 
HPO: HP:0030225

Definition

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

Term Hierarchy

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

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
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
Protein aggregate myopathies.
Sharma MC, Goebel HH
Neurol India 2005 Sep;53(3):273-9. doi: 10.4103/0028-3886.16921. PMID: 16230791
Progress in desmin-related myopathies.
Goebel HH, Warlo IA
J Child Neurol 2000 Sep;15(9):565-72. doi: 10.1177/088307380001500901. PMID: 11019786

Diagnosis

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J
Ann Neurol 2020 Aug;88(2):274-282. Epub 2020 Jun 3 doi: 10.1002/ana.25771. PMID: 32386344
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
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
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
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
Desmin myopathy.
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

Therapy

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
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
Provision of an explanation for the inefficacy of immunotherapy in sporadic inclusion body myositis: quantitative assessment of inflammation and β-amyloid in the muscle.
Zschüntzsch J, Voss J, Creus K, Sehmisch S, Raju R, Dalakas MC, Schmidt J
Arthritis Rheum 2012 Dec;64(12):4094-103. doi: 10.1002/art.37692. PMID: 22941914
Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents.
Bonifati DM, Ori C, Rossi CR, Caira S, Fanin M, Angelini C
Cancer Chemother Pharmacol 2000;46(6):517-22. doi: 10.1007/s002800000175. PMID: 11138466

Prognosis

c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
Lu XG, Yu U, Han CX, Mai JH, Liao JX, Hou YQ
J Integr Neurosci 2021 Mar 30;20(1):143-151. doi: 10.31083/j.jin.2021.01.267. PMID: 33834702
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
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P
Muscle Nerve 2003 Jun;27(6):669-75. doi: 10.1002/mus.10370. PMID: 12766977
Cardiomyopathy characterized by abnormal accumulation of desmin-type intermediate filaments in cardiac muscle fibers. A case report and review of the literature.
Tanaka M, Kawahara Y, Motomiya T, Sakamoto M, Sugiura M, Toyoda M, Kajita A, Osamura Y
Acta Pathol Jpn 1989 Apr;39(4):266-73. doi: 10.1111/j.1440-1827.1989.tb01511.x. PMID: 2662705

Clinical prediction guides

Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects.
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
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.
Franck A, Lainé J, Moulay G, Lemerle E, Trichet M, Gentil C, Benkhelifa-Ziyyat S, Lacène E, Bui MT, Brochier G, Guicheney P, Romero N, Bitoun M, Vassilopoulos S
Mol Biol Cell 2019 Mar 1;30(5):579-590. Epub 2019 Jan 2 doi: 10.1091/mbc.E18-11-0718. PMID: 30601711Free PMC Article
Human skeletal muscle fibroblasts stimulate in vitro myogenesis and in vivo muscle regeneration.
Mackey AL, Magnan M, Chazaud B, Kjaer M
J Physiol 2017 Aug 1;595(15):5115-5127. Epub 2017 May 23 doi: 10.1113/JP273997. PMID: 28369879Free PMC Article
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
Elastofibroma: a clinicopathologic and immunohistochemical study of seven cases and literature review.
Gun BD, Bahadir B, Behzatoglu K, Gun MO, Ozdamar SO
APMIS 2007 Feb;115(2):115-9. doi: 10.1111/j.1600-0463.2007.apm_525.x. PMID: 17295677

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...