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Abnormal muscle fiber protein expression

MedGen UID:: 868261
•Concept ID:: C4022653
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre protein expression

HPO:	HP:0030089

Definition

An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber protein expression

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Abnormal muscle fiber alpha dystroglycan
        Hypoglycosylation of alpha-dystroglycan
        Reduced muscle fiber alpha dystroglycan
        Abnormal muscle fiber alpha sarcoglycan
        Absent muscle fiber alpha sarcoglycan
        Reduced muscle fiber alpha sarcoglycan
        Abnormal muscle fiber beta sarcoglycan
        Absent muscle fiber beta sarcoglycan
        Reduced muscle fiber beta sarcoglycan
        Abnormal muscle fiber calpain-3
        Absent muscle fiber calpain-3
        Reduced muscle fiber calpain-3
        Abnormal muscle fiber delta sarcoglycan
        Absent muscle fiber delta sarcoglycan
        Reduced muscle fiber delta sarcoglycan
        Abnormal muscle fiber desmin
        Accumulation of muscle fiber desmin
        Abnormal muscle fiber dysferlin
        Absent muscle fiber dysferlin
        Reduced muscle fiber dysferlin
        Abnormal muscle fiber dystrophin expression
        Absent muscle dystrophin expression
        Reduced muscle dystrophin expression
        Abnormal muscle fiber emerin
        Absent muscle fiber emerin
        Reduced muscle fiber emerin
        Abnormal muscle fiber gamma sarcoglycan
        Absent muscle fiber gamma sarcoglycan
        Reduced muscle fiber gamma sarcoglycan
        Abnormal muscle fiber lamin A/C
        Reduced muscle fiber lamin A/C
        Abnormal muscle fiber laminin beta 1
        Reduced muscle fiber laminin beta 1
        Abnormal muscle fiber merosin expression
        Absent muscle fiber merosin
        Reduced muscle fiber merosin
        Abnormal muscle fiber myotilin
        Accumulation of muscle fiber myotilin
        Abnormal muscle fiber valosin-containing protein
        Accumulation of muscle fiber valosin-containing protein
        Elevated muscle fiber laminin alpha 5 expression
        Reduced muscle collagen VI
        Reduced muscle fiber perlecan
        Reduced muscle telethonin level

Professional guidelines

PubMed

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.

Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, Marty I, Lunardi J, Brooks SV, Kuwada JY, Ferreiro A
Brain 2012 Apr;135(Pt 4):1115-27. Epub 2012 Mar 14 doi: 10.1093/brain/aws036. PMID: 22418739 Free PMC Article

Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

Yuen B, Boncompagni S, Feng W, Yang T, Lopez JR, Matthaei KI, Goth SR, Protasi F, Franzini-Armstrong C, Allen PD, Pessah IN
FASEB J 2012 Mar;26(3):1311-22. Epub 2011 Nov 30 doi: 10.1096/fj.11-197582. PMID: 22131268 Free PMC Article

Diagnosis, pathogenesis and treatment of inclusion body myositis.

Oldfors A, Lindberg C
Curr Opin Neurol 2005 Oct;18(5):497-503. doi: 10.1097/01.wco.0000183115.14175.29. PMID: 16155431

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Recent clinical studies

Etiology

Muscle fiber phenotype: a culprit of abnormal metabolism and function in skeletal muscle of humans with obesity.

Serrano N, Hyatt JK, Houmard JA, Murgia M, Katsanos CS
Am J Physiol Endocrinol Metab 2023 Dec 1;325(6):E723-E733. Epub 2023 Oct 25 doi: 10.1152/ajpendo.00190.2023. PMID: 37877797 Free PMC Article

Muscle-Related Plectinopathies.

Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129 Free PMC Article

Physiopathology of vesico-ureteral reflux.

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: 27899160 Free PMC Article

Autoantibodies in polymyositis and dermatomyositis.

Ghirardello A, Bassi N, Palma L, Borella E, Domeneghetti M, Punzi L, Doria A
Curr Rheumatol Rep 2013 Jun;15(6):335. doi: 10.1007/s11926-013-0335-1. PMID: 23591825

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: 21256014 Free PMC Article

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Diagnosis

Marfan syndrome: A therapeutic challenge for long-term care.

Wagner AH, Zaradzki M, Arif R, Remes A, Müller OJ, Kallenbach K
Biochem Pharmacol 2019 Jun;164:53-63. Epub 2019 Mar 27 doi: 10.1016/j.bcp.2019.03.034. PMID: 30926475

Necrotizing myopathies: an update.

Quinn C, Salameh JS, Smith T, Souayah N
J Clin Neuromuscul Dis 2015 Mar;16(3):131-40. doi: 10.1097/CND.0000000000000065. PMID: 25695918

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: 21256014 Free PMC Article

Nebulin--a giant chameleon.

Pelin K, Wallgren-Pettersson C
Adv Exp Med Biol 2008;642:28-39. PMID: 19181091

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

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Therapy

Impact of Notch3 Activation on Aortic Aneurysm Development in Marfan Syndrome.

Jespersen K, Li C, Batra R, Stephenson CA, Harding P, Sestak K, Foley RT, Greene H, Meisinger T, Cook JR, Baxter BT, Xiong W
J Immunol Res 2022;2022:7538649. Epub 2022 Feb 15 doi: 10.1155/2022/7538649. PMID: 35211631 Free PMC Article

Skeletal Muscle Phenotype in Patients Undergoing Long-Term Hemodialysis Awaiting Kidney Transplantation.

Souweine JS, Gouzi F, Badia É, Pomies P, Garrigue V, Morena M, Hayot M, Mercier J, Ayoub B, Quintrec ML, Raynaud F, Cristol JP
Clin J Am Soc Nephrol 2021 Nov;16(11):1676-1685. doi: 10.2215/CJN.02390221. PMID: 34750160 Free PMC Article

Marfan syndrome: A therapeutic challenge for long-term care.

Wagner AH, Zaradzki M, Arif R, Remes A, Müller OJ, Kallenbach K
Biochem Pharmacol 2019 Jun;164:53-63. Epub 2019 Mar 27 doi: 10.1016/j.bcp.2019.03.034. PMID: 30926475

Necrotizing myopathies: an update.

Quinn C, Salameh JS, Smith T, Souayah N
J Clin Neuromuscul Dis 2015 Mar;16(3):131-40. doi: 10.1097/CND.0000000000000065. PMID: 25695918

Chemokines in idiopathic inflammatory myopathies.

De Paepe B, Creus KK, De Bleecker JL
Front Biosci 2008 Jan 1;13:2548-77. doi: 10.2741/2866. PMID: 17981734

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Prognosis

Upregulation of miR-222-3p alleviates the symptom of aortic dissection through targeting STAT3.

Chai T, Yang X, Zhuang X, Qiu Z, Zheng H, Cai M, Hu Y, Chen M, Xie X, Chen K, Lin Y, Chen L
Life Sci 2022 Dec 1;310:121051. Epub 2022 Oct 8 doi: 10.1016/j.lfs.2022.121051. PMID: 36216078

Analgesic and neuroprotective effects of Baimai Ointment on diabetic peripheral neuropathy.

Li Z, Wang W, Meng F, Zhou Z, Zhao Z, Mei Z
J Ethnopharmacol 2022 Jun 28;292:115122. Epub 2022 Feb 21 doi: 10.1016/j.jep.2022.115122. PMID: 35202714

CTNNB1 Mutations and Estrogen Receptor Expression in Neuromuscular Choristoma and Its Associated Fibromatosis.

Carter JM, Howe BM, Hawse JR, Giannini C, Spinner RJ, Fritchie KJ
Am J Surg Pathol 2016 Oct;40(10):1368-74. doi: 10.1097/PAS.0000000000000673. PMID: 27259010

Multi-minicore disease revisited.

Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J
Arq Neuropsiquiatr 2004 Dec;62(4):935-9. Epub 2004 Dec 15 doi: 10.1590/s0004-282x2004000600002. PMID: 15608948

Familial dysautonomia.

Axelrod FB
Muscle Nerve 2004 Mar;29(3):352-63. doi: 10.1002/mus.10499. PMID: 14981733

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Clinical prediction guides

Voltage-gated sodium channels in cancer and their specific inhibitors.

Bian Y, Tuo J, He L, Li W, Li S, Chu H, Zhao Y
Pathol Res Pract 2023 Nov;251:154909. Epub 2023 Oct 28 doi: 10.1016/j.prp.2023.154909. PMID: 37939447

Oat β-glucan alleviates muscle atrophy via promoting myotube formation and suppressing protein degradation.

Zhang J, Zheng M, Zhou L, Li X, Yu Y, Wang J, Sun B
J Sci Food Agric 2023 Oct;103(13):6252-6262. Epub 2023 May 24 doi: 10.1002/jsfa.12696. PMID: 37160715

Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.

Wright A, Hall A, Daly T, Fontelonga T, Potter S, Schafer C, Lindsley A, Hung C, Bodamer O, Gussoni E
FASEB J 2021 Nov;35(11):e21955. doi: 10.1096/fj.202100823R. PMID: 34613626 Free PMC Article

Skeletal Muscle and Peripheral Nerve Histopathology in COVID-19.

Suh J, Mukerji SS, Collens SI, Padera RF Jr, Pinkus GS, Amato AA, Solomon IH
Neurology 2021 Aug 24;97(8):e849-e858. Epub 2021 Jun 7 doi: 10.1212/WNL.0000000000012344. PMID: 34099523

Autoantibodies in polymyositis and dermatomyositis.

Ghirardello A, Bassi N, Palma L, Borella E, Domeneghetti M, Punzi L, Doria A
Curr Rheumatol Rep 2013 Jun;15(6):335. doi: 10.1007/s11926-013-0335-1. PMID: 23591825

See all (205)

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Abnormal muscle fiber protein expression

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

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