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Qualitative or quantitative defects of merosin

MedGen UID:
832056
Concept ID:
CN226848
Finding
Synonyms: LAMA2-related muscular dystrophy; Laminin subunit alpha 2-related muscular dystrophy
 
Orphanet: ORPHA207094

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Qualitative or quantitative defects of merosin
Follow this link to review classifications for Qualitative or quantitative defects of merosin in Orphanet.

Professional guidelines

PubMed

Dart RC, Mullins ME, Matoushek T, Ruha AM, Burns MM, Simone K, Beuhler MC, Heard KJ, Mazer-Amirshahi M, Stork CM, Varney SM, Funk AR, Cantrell LF, Cole JB, Banner W, Stolbach AI, Hendrickson RG, Lucyk SN, Sivilotti MLA, Su MK, Nelson LS, Rumack BH
JAMA Netw Open 2023 Aug 1;6(8):e2327739. doi: 10.1001/jamanetworkopen.2023.27739. PMID: 37552484
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Br J Sports Med 2021 Oct;55(19):1106-1118. Epub 2021 Mar 30 doi: 10.1136/bjsports-2019-101970. PMID: 33785535Free PMC Article

Recent clinical studies

Etiology

Rumpel S, Kempen R, Merle R, Thoene-Reineke C
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Zurashvili T, Chakhaia T, Kochlamazashvili M, Kamkamidze G, Butsashvili M
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Coelingh Bennink HJ
Maturitas 2004 Apr 15;47(4):269-75. doi: 10.1016/j.maturitas.2003.11.009. PMID: 15063479

Diagnosis

Betzler BK, Young SM, Sundar G
Ophthalmic Plast Reconstr Surg 2022 May-Jun 01;38(3):219-225. Epub 2021 Aug 17 doi: 10.1097/IOP.0000000000002049. PMID: 34406153
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Robinson JH
Br J Sociol 2020 Jun;71(3):460-473. Epub 2020 Apr 23 doi: 10.1111/1468-4446.12758. PMID: 32323866
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Abdom Imaging 2006 Sep-Oct;31(5):582-7. Epub 2006 Feb 7 doi: 10.1007/s00261-005-0155-5. PMID: 16465580

Therapy

Baldi Antognini A, Novelli M, Zagoraiou M
Stat Med 2023 Apr 30;42(9):1323-1337. Epub 2023 Jan 27 doi: 10.1002/sim.9672. PMID: 37078360
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J Prosthodont Res 2022 Jan 11;66(1):40-52. Epub 2021 Jan 26 doi: 10.2186/jpr.JPR_D_20_00116. PMID: 33504721
Fazzari MJ, Kim MY
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Snowdon C
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Prognosis

Zou T, Liu XY, Wang PC, Chen H, Wu PG, Feng XM, Sun HH
Clin Spine Surg 2024 Jul 1;37(6):256-269. Epub 2023 Jul 31 doi: 10.1097/BSD.0000000000001490. PMID: 37559207
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Murray-Davis B, Grenier L, Atkinson SA, Mottola MF, Wahoush O, Thabane L, Xie F, Vickers-Manzin J, Moore C, Hutton EK
BMC Pregnancy Childbirth 2019 Oct 21;19(1):368. doi: 10.1186/s12884-019-2508-z. PMID: 31638920Free PMC Article
Stewart K, Choudry MI, Buckingham R
Clin Med (Lond) 2016 Dec;16(6):530-534. doi: 10.7861/clinmedicine.16-6-530. PMID: 27927816Free PMC Article

Clinical prediction guides

Bramah C, Tawiah-Dodoo J, Rhodes S, Elliott JD, Dos'Santos T
Am J Sports Med 2024 May;52(6):1608-1616. Epub 2024 Mar 28 doi: 10.1177/03635465241235525. PMID: 38544464Free PMC Article
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J Am Acad Child Adolesc Psychiatry 2001 Aug;40(8):973-6. doi: 10.1097/00004583-200108000-00020. PMID: 11501698
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BMJ 2000 Jan 8;320(7227):114-6. doi: 10.1136/bmj.320.7227.114. PMID: 10625273Free PMC Article

Recent systematic reviews

Balboni TA, VanderWeele TJ, Doan-Soares SD, Long KNG, Ferrell BR, Fitchett G, Koenig HG, Bain PA, Puchalski C, Steinhauser KE, Sulmasy DP, Koh HK
JAMA 2022 Jul 12;328(2):184-197. doi: 10.1001/jama.2022.11086. PMID: 35819420
Hennink M, Kaiser BN
Soc Sci Med 2022 Jan;292:114523. Epub 2021 Nov 2 doi: 10.1016/j.socscimed.2021.114523. PMID: 34785096
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Kim H, Sefcik JS, Bradway C
Res Nurs Health 2017 Feb;40(1):23-42. Epub 2016 Sep 30 doi: 10.1002/nur.21768. PMID: 27686751Free PMC Article
Kallio H, Pietilä AM, Johnson M, Kangasniemi M
J Adv Nurs 2016 Dec;72(12):2954-2965. Epub 2016 Jun 23 doi: 10.1111/jan.13031. PMID: 27221824

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