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Abnormal enzyme activity in muscle tissue

MedGen UID:
1841895
•Concept ID:
C5826450
•
Finding
HPO: HP:0034526

Definition

Deviation from the normal activity of an enzyme in muscle tissue. [from HPO]

Professional guidelines

PubMed

Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.
Jauze L, Monteillet L, Mithieux G, Rajas F, Ronzitti G
Hum Gene Ther 2019 Oct;30(10):1263-1273. Epub 2019 Aug 27 doi: 10.1089/hum.2019.102. PMID: 31319709
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H
J Hum Genet 2016 Aug;61(8):753-9. Epub 2016 May 19 doi: 10.1038/jhg.2016.42. PMID: 27193224
Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
Kes VB, Cesarik M, Zavoreo I, Soldo-Butković S, Kes P, Basić-Jukić N, Racki S, Jakić M, Delić-Brkljacić D, Jukić Z, Trkanjec Z, Serić V, Solter VV, Bielen I, Basić S, Demarin V; Croatian Society for Neurovascular Disorders of Croatian Medical Association; Croatian Society of Neuroimmunology and Neurogenetics; Croatian Society of Neurology of Croatian Medical Association; Croatian Society of Nephrology, Dialysis and Transplantation of Croatian Medical Association
Acta Clin Croat 2013 Sep;52(3):395-405. PMID: 24558776

Recent clinical studies

Etiology

Atrial Myocyte NLRP3/CaMKII Nexus Forms a Substrate for Postoperative Atrial Fibrillation.
Heijman J, Muna AP, Veleva T, Molina CE, Sutanto H, Tekook M, Wang Q, Abu-Taha IH, Gorka M, Künzel S, El-Armouche A, Reichenspurner H, Kamler M, Nikolaev V, Ravens U, Li N, Nattel S, Wehrens XHT, Dobrev D
Circ Res 2020 Sep 25;127(8):1036-1055. Epub 2020 Jul 30 doi: 10.1161/CIRCRESAHA.120.316710. PMID: 32762493Free PMC Article
Matrix Metalloproteinases in Normal Pregnancy and Preeclampsia.
Chen J, Khalil RA
Prog Mol Biol Transl Sci 2017;148:87-165. Epub 2017 May 22 doi: 10.1016/bs.pmbts.2017.04.001. PMID: 28662830Free PMC Article
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037
Adverse effects of creatine supplementation: fact or fiction?
Poortmans JR, Francaux M
Sports Med 2000 Sep;30(3):155-70. doi: 10.2165/00007256-200030030-00002. PMID: 10999421
Endomyocardial biopsy.
Laser JA, Fowles RE, Mason JW
Cardiovasc Clin 1985;15(1):141-63. PMID: 3916087

Diagnosis

Role of matrix metalloproteinases in the pathogenesis of intracranial aneurysms.
Zhang X, Ares WJ, Taussky P, Ducruet AF, Grandhi R
Neurosurg Focus 2019 Jul 1;47(1):E4. doi: 10.3171/2019.4.FOCUS19214. PMID: 31261127
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.
Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE
Mol Diagn Ther 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193Free PMC Article
Lipid storage myopathy.
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429
Endomyocardial biopsy.
Laser JA, Fowles RE, Mason JW
Cardiovasc Clin 1985;15(1):141-63. PMID: 3916087

Therapy

Physiological and pathological roles of protein kinase A in the heart.
Liu Y, Chen J, Fontes SK, Bautista EN, Cheng Z
Cardiovasc Res 2022 Jan 29;118(2):386-398. doi: 10.1093/cvr/cvab008. PMID: 33483740Free PMC Article
Atrial Myocyte NLRP3/CaMKII Nexus Forms a Substrate for Postoperative Atrial Fibrillation.
Heijman J, Muna AP, Veleva T, Molina CE, Sutanto H, Tekook M, Wang Q, Abu-Taha IH, Gorka M, Künzel S, El-Armouche A, Reichenspurner H, Kamler M, Nikolaev V, Ravens U, Li N, Nattel S, Wehrens XHT, Dobrev D
Circ Res 2020 Sep 25;127(8):1036-1055. Epub 2020 Jul 30 doi: 10.1161/CIRCRESAHA.120.316710. PMID: 32762493Free PMC Article
Atypical protein kinase C in cardiometabolic abnormalities.
Farese RV, Sajan MP
Curr Opin Lipidol 2012 Jun;23(3):175-181. doi: 10.1097/MOL.0b013e328352c4c7. PMID: 22449812Free PMC Article
Adverse effects of creatine supplementation: fact or fiction?
Poortmans JR, Francaux M
Sports Med 2000 Sep;30(3):155-70. doi: 10.2165/00007256-200030030-00002. PMID: 10999421
Endomyocardial biopsy.
Laser JA, Fowles RE, Mason JW
Cardiovasc Clin 1985;15(1):141-63. PMID: 3916087

Prognosis

Physiological Properties, Functions, and Trends in the Matrix Metalloproteinase Inhibitors in Inflammation-Mediated Human Diseases.
Kim IS, Yang WS, Kim CH
Curr Med Chem 2023;30(18):2075-2112. doi: 10.2174/0929867329666220823112731. PMID: 36017851
Matrix Metalloproteinases in Normal Pregnancy and Preeclampsia.
Chen J, Khalil RA
Prog Mol Biol Transl Sci 2017;148:87-165. Epub 2017 May 22 doi: 10.1016/bs.pmbts.2017.04.001. PMID: 28662830Free PMC Article
Alterations of Mitochondrial Function and Insulin Sensitivity in Human Obesity and Diabetes Mellitus.
Koliaki C, Roden M
Annu Rev Nutr 2016 Jul 17;36:337-67. Epub 2016 May 4 doi: 10.1146/annurev-nutr-071715-050656. PMID: 27146012
Myonecrosis after revascularization procedures.
Califf RM, Abdelmeguid AE, Kuntz RE, Popma JJ, Davidson CJ, Cohen EA, Kleiman NS, Mahaffey KW, Topol EJ, Pepine CJ, Lipicky RJ, Granger CB, Harrington RA, Tardiff BE, Crenshaw BS, Bauman RP, Zuckerman BD, Chaitman BR, Bittl JA, Ohman EM
J Am Coll Cardiol 1998 Feb;31(2):241-51. doi: 10.1016/s0735-1097(97)00506-8. PMID: 9462562
Alcoholic muscle disease.
Martin F, Peters TJ
Alcohol Alcohol 1985;20(2):125-36. PMID: 2932118

Clinical prediction guides

Why the diabetic heart is energy inefficient: a ketogenesis and ketolysis perspective.
Mishra PK
Am J Physiol Heart Circ Physiol 2021 Oct 1;321(4):H751-H755. Epub 2021 Sep 17 doi: 10.1152/ajpheart.00260.2021. PMID: 34533402Free PMC Article
Matrix Metalloproteinases in Normal Pregnancy and Preeclampsia.
Chen J, Khalil RA
Prog Mol Biol Transl Sci 2017;148:87-165. Epub 2017 May 22 doi: 10.1016/bs.pmbts.2017.04.001. PMID: 28662830Free PMC Article
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Skeletal muscle abnormalities in chronic heart failure.
Georgiadou P, Adamopoulos S
Curr Heart Fail Rep 2012 Jun;9(2):128-32. doi: 10.1007/s11897-012-0090-z. PMID: 22430147
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429

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