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Lipid storage myopathy

MedGen UID:
140821
Concept ID:
C0410214
Disease or Syndrome
Synonym: Muscular lipidosis
SNOMED CT: Lipid storage myopathy (240095001)
 
Orphanet: ORPHA206953

Professional guidelines

PubMed

Bhai SF, Vissing J
Muscle Nerve 2023 Sep;68(3):250-256. Epub 2023 May 25 doi: 10.1002/mus.27840. PMID: 37226557
Lin Y, Zhang W, Chen Z, Lin C, Lin W, Fu Q, Peng W, Chen D
J Pediatr Endocrinol Metab 2021 May 26;34(5):649-652. Epub 2021 Apr 7 doi: 10.1515/jpem-2020-0694. PMID: 33823107
Angelini C
J Neurol 1976 Nov 26;214(1):1-11. doi: 10.1007/BF00313485. PMID: 62824

Recent clinical studies

Etiology

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Han J, Song X, Lu S, Ji G, Xie Y, Wu H
Med Sci Monit 2019 Nov 30;25:9103-9111. doi: 10.12659/MSM.918841. PMID: 31785094Free PMC Article
Angelini C
Biochim Biophys Acta 2015 Apr;1852(4):615-21. Epub 2014 Jul 2 doi: 10.1016/j.bbadis.2014.06.031. PMID: 24997454
Tein I
Handb Clin Neurol 2013;113:1675-88. doi: 10.1016/B978-0-444-59565-2.00035-6. PMID: 23622388

Diagnosis

Bhai SF, Vissing J
Muscle Nerve 2023 Sep;68(3):250-256. Epub 2023 May 25 doi: 10.1002/mus.27840. PMID: 37226557
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Aguennouz M, Beccaria M, Purcaro G, Oteri M, Micalizzi G, Musumesci O, Ciranni A, Di Giorgio RM, Toscano A, Dugo P, Mondello L
J Chromatogr B Analyt Technol Biomed Life Sci 2016 Sep 1;1029-1030:157-168. Epub 2016 Jul 1 doi: 10.1016/j.jchromb.2016.06.039. PMID: 27428459
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T
Eur J Pediatr 2011 Nov;170(11):1365-7. Epub 2011 Sep 23 doi: 10.1007/s00431-011-1575-6. PMID: 21947198
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290

Therapy

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A
Pediatr Neurol 2019 Oct;99:69-75. Epub 2019 Jun 28 doi: 10.1016/j.pediatrneurol.2019.06.015. PMID: 31331668
Summers MA, Rupasinghe T, Vasiljevski ER, Evesson FJ, Mikulec K, Peacock L, Quinlan KG, Cooper ST, Roessner U, Stevenson DA, Little DG, Schindeler A
Hum Mol Genet 2018 Feb 15;27(4):577-588. doi: 10.1093/hmg/ddx423. PMID: 29228356
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C
J Neurol Neurosurg Psychiatry 2010 Feb;81(2):231-6. Epub 2009 Sep 15 doi: 10.1136/jnnp.2009.176404. PMID: 19758981

Prognosis

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Paul P, Vazquez Do Campo R, Liewluck T, Naddaf E
Neuromuscul Disord 2021 Jun;31(6):546-550. Epub 2021 Mar 22 doi: 10.1016/j.nmd.2021.03.004. PMID: 33903020
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T
Eur J Pediatr 2011 Nov;170(11):1365-7. Epub 2011 Sep 23 doi: 10.1007/s00431-011-1575-6. PMID: 21947198

Clinical prediction guides

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Noguera NI, Tavian D, Angelini C, Cortese F, Filosto M, Garibaldi M, Missaglia S, Smigliani A, Zaza A, Pennisi EM
Biomolecules 2023 Mar 1;13(3) doi: 10.3390/biom13030452. PMID: 36979387Free PMC Article
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
Angelini C, Nascimbeni AC, Cenacchi G, Tasca E
Biochim Biophys Acta 2016 Jul;1862(7):1367-73. Epub 2016 Apr 13 doi: 10.1016/j.bbadis.2016.04.008. PMID: 27085974Free PMC Article

Recent systematic reviews

Ma J, Zhang H, Liang F, Li G, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W
Orphanet J Rare Dis 2024 Feb 16;19(1):72. doi: 10.1186/s13023-024-03072-6. PMID: 38365830Free PMC Article

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