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Abnormal muscle glycogen content

MedGen UID:
868581
Concept ID:
C4022980
Anatomical Abnormality
HPO: HP:0012269

Definition

Any anomaly in the amount of glycogen in muscle tissue. [from HPO]

Recent clinical studies

Etiology

Lee MC, Hsu YJ, Sung HC, Wen YT, Wei L, Huang CC
Nutrients 2022 Sep 10;14(18) doi: 10.3390/nu14183746. PMID: 36145123Free PMC Article
Wei P, Jiang G, Wang H, Ru S, Zhao F
Aquat Toxicol 2021 Dec;241:106000. Epub 2021 Oct 19 doi: 10.1016/j.aquatox.2021.106000. PMID: 34715482
Glintborg D, Højlund K, Andersen NR, Hansen BF, Beck-Nielsen H, Wojtaszewski JF
J Clin Endocrinol Metab 2008 Sep;93(9):3618-26. Epub 2008 Jun 10 doi: 10.1210/jc.2008-0760. PMID: 18544618
Højlund K, Beck-Nielsen H
Curr Diabetes Rev 2006 Nov;2(4):375-95. doi: 10.2174/1573399810602040375. PMID: 18220643
Levin K, Daa Schroeder H, Alford FP, Beck-Nielsen H
Diabetologia 2001 Jul;44(7):824-33. doi: 10.1007/s001250100545. PMID: 11508266

Diagnosis

Nitschke S, Petković S, Ahonen S, Minassian BA, Nitschke F
J Biol Chem 2020 Oct 23;295(43):14698-14709. Epub 2020 Aug 13 doi: 10.1074/jbc.RA120.015061. PMID: 32817315Free PMC Article
Banankhah P, Fishbein GA, Dota A, Ardehali R
BMC Med Genet 2018 Jan 3;19(1):1. doi: 10.1186/s12881-017-0512-6. PMID: 29298659Free PMC Article
Takemura G, Kanamori H, Okada H, Tsujimoto A, Miyazaki N, Takada C, Hotta Y, Takatsu Y, Fujiwara T, Fujiwara H
Cardiovasc Pathol 2017 Sep-Oct;30:64-71. Epub 2017 Jul 4 doi: 10.1016/j.carpath.2017.06.012. PMID: 28779645
Nance JR, Mammen AL
Muscle Nerve 2015 Jun;51(6):793-810. Epub 2015 Mar 14 doi: 10.1002/mus.24606. PMID: 25678154Free PMC Article
Glintborg D, Højlund K, Andersen NR, Hansen BF, Beck-Nielsen H, Wojtaszewski JF
J Clin Endocrinol Metab 2008 Sep;93(9):3618-26. Epub 2008 Jun 10 doi: 10.1210/jc.2008-0760. PMID: 18544618

Therapy

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: 34750160Free PMC Article
Biensø RS, Ringholm S, Kiilerich K, Aachmann-Andersen NJ, Krogh-Madsen R, Guerra B, Plomgaard P, van Hall G, Treebak JT, Saltin B, Lundby C, Calbet JA, Pilegaard H, Wojtaszewski JF
Diabetes 2012 May;61(5):1090-9. Epub 2012 Mar 8 doi: 10.2337/db11-0884. PMID: 22403297Free PMC Article
Glintborg D, Højlund K, Andersen NR, Hansen BF, Beck-Nielsen H, Wojtaszewski JF
J Clin Endocrinol Metab 2008 Sep;93(9):3618-26. Epub 2008 Jun 10 doi: 10.1210/jc.2008-0760. PMID: 18544618
Mancini D, Benaminovitz A, Cordisco ME, Karmally W, Weinberg A
J Am Coll Cardiol 1999 Nov 15;34(6):1807-12. doi: 10.1016/s0735-1097(99)00413-1. PMID: 10577574
Davenport A, King RF, Ironside JW, Will EJ, Davison AM
Nephron 1993;64(1):89-94. doi: 10.1159/000187284. PMID: 8502342

Prognosis

Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS
Mol Ther 2018 Sep 5;26(9):2304-2314. Epub 2018 Jul 5 doi: 10.1016/j.ymthe.2018.06.023. PMID: 30025991Free PMC Article
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J
J Med Genet 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995. PMID: 21931168Free PMC Article
Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F
Am J Med Genet 1997 Oct 17;72(2):135-42. PMID: 9382133
Maes A, Flameng W, Nuyts J, Borgers M, Shivalkar B, Ausma J, Bormans G, Schiepers C, De Roo M, Mortelmans L
Circulation 1994 Aug;90(2):735-45. doi: 10.1161/01.cir.90.2.735. PMID: 8044942
Usuki F, Takenaga S, Higuchi I, Kashio N, Nakagawa M, Osame M
J Neurol Sci 1994 Dec 1;127(1):54-60. doi: 10.1016/0022-510x(94)90135-x. PMID: 7699392

Clinical prediction guides

Lee MC, Hsu YJ, Sung HC, Wen YT, Wei L, Huang CC
Nutrients 2022 Sep 10;14(18) doi: 10.3390/nu14183746. PMID: 36145123Free PMC Article
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: 34750160Free PMC Article
Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS
Mol Ther 2018 Sep 5;26(9):2304-2314. Epub 2018 Jul 5 doi: 10.1016/j.ymthe.2018.06.023. PMID: 30025991Free PMC Article
Vaughan D, Brogioli M, Maier T, White A, Waldron S, Rittweger J, Toigo M, Wettstein J, Laczko E, Flück M
PLoS One 2016;11(3):e0149046. Epub 2016 Mar 16 doi: 10.1371/journal.pone.0149046. PMID: 26982073Free PMC Article
Kanzleiter T, Preston E, Wilks D, Ho B, Benrick A, Reznick J, Heilbronn LK, Turner N, Cooney GJ
Diabetologia 2010 Jun;53(6):1174-83. Epub 2010 Mar 9 doi: 10.1007/s00125-010-1703-2. PMID: 20217038

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