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Reduced muscle dystrophin expression

MedGen UID:
866706
Concept ID:
C4021053
Finding
Synonym: Reduced dystrophin staining in muscle
 
HPO: HP:0030098

Definition

A decreased amount of dystrophin in muscle fiber tissue. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Preethy S, Yamamoto N, Osaza S, Raghavan K, Dedeepiya VD, Iwasaki M, Abraham SJ
J Smooth Muscle Res 2023;59:67-80. doi: 10.1540/jsmr.59.67. PMID: 37673649Free PMC Article
Filippelli RL, Chang NC
Cells Tissues Organs 2022;211(6):641-654. Epub 2021 Apr 28 doi: 10.1159/000514305. PMID: 33910206
Shieh PB
Neurotherapeutics 2018 Oct;15(4):840-848. doi: 10.1007/s13311-018-00687-z. PMID: 30414046Free PMC Article

Recent clinical studies

Etiology

Xin C, Chu X, Wei W, Kuang B, Wang Y, Tang Y, Chen J, You H, Li C, Wang B
Hum Mol Genet 2021 Jun 26;30(14):1349-1359. doi: 10.1093/hmg/ddab120. PMID: 33987645
Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR
JAMA Neurol 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. PMID: 32539076Free PMC Article
Allen DG, Whitehead NP, Froehner SC
Physiol Rev 2016 Jan;96(1):253-305. doi: 10.1152/physrev.00007.2015. PMID: 26676145Free PMC Article
Engvall E, Wewer UM
FASEB J 2003 Sep;17(12):1579-84. doi: 10.1096/fj.02-1215rev. PMID: 12958164
Hartigan-O'Connor D, Chamberlain JS
Microsc Res Tech 2000 Feb 1-15;48(3-4):223-38. doi: 10.1002/(SICI)1097-0029(20000201/15)48:3/4<223::AID-JEMT10>3.0.CO;2-L. PMID: 10679969

Diagnosis

Casati SR, Cervia D, Roux-Biejat P, Moscheni C, Perrotta C, De Palma C
Cells 2024 Mar 26;13(7) doi: 10.3390/cells13070574. PMID: 38607013Free PMC Article
Iftikhar M, Frey J, Shohan MJ, Malek S, Mousa SA
Pharmacol Ther 2021 Apr;220:107719. Epub 2020 Oct 29 doi: 10.1016/j.pharmthera.2020.107719. PMID: 33130193
Wilson K, Faelan C, Patterson-Kane JC, Rudmann DG, Moore SA, Frank D, Charleston J, Tinsley J, Young GD, Milici AJ
Toxicol Pathol 2017 Oct;45(7):961-976. Epub 2017 Oct 3 doi: 10.1177/0192623317734823. PMID: 28974147Free PMC Article
Falzarano MS, Scotton C, Passarelli C, Ferlini A
Molecules 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. PMID: 26457695Free PMC Article
Engvall E, Wewer UM
FASEB J 2003 Sep;17(12):1579-84. doi: 10.1096/fj.02-1215rev. PMID: 12958164

Therapy

Kawamura Y, Hida T, Ohkawara B, Matsushita M, Kobayashi T, Ishizuka S, Hiraiwa H, Tanaka S, Tsushima M, Nakashima H, Ito K, Imagama S, Ito M, Masuda A, Ishiguro N, Ohno K
Biochem Biophys Res Commun 2022 Feb 12;592:87-92. Epub 2022 Jan 7 doi: 10.1016/j.bbrc.2022.01.003. PMID: 35033871
Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR
JAMA Neurol 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. PMID: 32539076Free PMC Article
Fallon JR, McNally EM
Matrix Biol 2018 Aug;68-69:616-627. Epub 2018 Feb 23 doi: 10.1016/j.matbio.2018.02.016. PMID: 29481844Free PMC Article
Falzarano MS, Scotton C, Passarelli C, Ferlini A
Molecules 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. PMID: 26457695Free PMC Article
Malik V, Rodino-Klapac LR, Mendell JR
Expert Opin Emerg Drugs 2012 Jun;17(2):261-77. doi: 10.1517/14728214.2012.691965. PMID: 22632414Free PMC Article

Prognosis

Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M
Eur J Hum Genet 2024 Mar;32(3):342-349. Epub 2024 Jan 4 doi: 10.1038/s41431-023-01516-4. PMID: 38177406Free PMC Article
Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR
JAMA Neurol 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. PMID: 32539076Free PMC Article
Doorenweerd N, Dumas EM, Ghariq E, Schmid S, Straathof CS, Roest AA, Wokke BH, van Zwet EW, Webb AG, Hendriksen JG, van Buchem MA, Verschuuren JJ, Asllani I, Niks EH, van Osch MJ, Kan HE
Neuromuscul Disord 2017 Jan;27(1):29-37. Epub 2016 Oct 17 doi: 10.1016/j.nmd.2016.10.005. PMID: 27927595
Piccolo F, Moore SA, Ford GC, Campbell KP
Ann Neurol 2000 Dec;48(6):902-12. PMID: 11117547
Ray PN, Klamut HJ, Worton RG
Adv Exp Med Biol 1990;280:107-11; discussion 111-2. doi: 10.1007/978-1-4684-5865-7_14. PMID: 2248131

Clinical prediction guides

Gosselin MRF, Mournetas V, Borczyk M, Verma S, Occhipinti A, Róg J, Bozycki L, Korostynski M, Robson SC, Angione C, Pinset C, Gorecki DC
Elife 2022 Sep 27;11 doi: 10.7554/eLife.75521. PMID: 36164827Free PMC Article
Addicks GC, Zhang H, Ryu D, Vasam G, Green AE, Marshall PL, Patel S, Kang BE, Kim D, Katsyuba E, Williams EG, Renaud JM, Auwerx J, Menzies KJ
J Cell Biol 2022 Feb 7;221(2) Epub 2022 Jan 13 doi: 10.1083/jcb.202104022. PMID: 35024765Free PMC Article
Xin C, Chu X, Wei W, Kuang B, Wang Y, Tang Y, Chen J, You H, Li C, Wang B
Hum Mol Genet 2021 Jun 26;30(14):1349-1359. doi: 10.1093/hmg/ddab120. PMID: 33987645
Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR
JAMA Neurol 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. PMID: 32539076Free PMC Article
Kinder TB, Heier CR, Tully CB, Van der Muelen JH, Hoffman EP, Nagaraju K, Fiorillo AA
Arthritis Rheumatol 2020 Jul;72(7):1170-1183. Epub 2020 May 31 doi: 10.1002/art.41215. PMID: 32009304Free PMC Article

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