| 1 | LAMA2, MDC1A
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| Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.
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| Yang Y, Mao B, Wang L, Mao L, Zhou A, Cao J, Hu J, Zhou Y, Pan Y, Wei X, Yang S, Mu F, Liu Z.
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| Mol Med Rep 11(5):3687-93. doi: 10.3892/mmr.2014.3135. Epub 2014 Dec 24.
2015
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| 2 | LAMA2, MDC1A
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| LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies.
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| L Kken N, Born AP, Duno M, Vissing J.
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| Muscle Nerve uscle Nerve. 2015 Feb 5. doi: 10.1002/mus.24588. [Epub ahead of print]
2015
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| 3 | LAMA2, MDC1A
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| High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
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| Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.
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| Mol Cell Probes 28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
2014
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| 4 | LAMA2, MDC1A
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| Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
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| Carmignac V, Svensson M, Körner Z, Elowsson L, Matsumura C, Gawlik KI, Allamand V, Durbeej M.
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| Hum Mol Genet 20(24):4891-902. doi: 10.1093/hmg/ddr427. Epub 2011 Sep 14.
2011
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| 5 | LAMA2, MDC1A
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| Congenital muscular dystrophies with cognitive impairment. A population study.
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| Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E.
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| Neurology 75(10):898-903.PMID: 20820001 2010
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| 6 | LAMA2, MDC1A, XRCC6
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| Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.
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| Vishnudas VK, Miller JB.
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| Hum Mol Genet 18(23):4467-77. Epub 2009 Aug 19.PMID: 19692349 2009
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| 7 | LAMA2, MDC1A
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| LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
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| Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.
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| Clin Genet 74(6):502-12. Epub 2008 Jun 11.
2008
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| 8 | LAMA2, MDC1A
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| Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.
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| Yuan J, Takashima H, Higuchi I, Arimura K, Li N, Zhao Z, Shen H, Hu J.
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| Neuropediatrics 39(5):264-7. Epub 2009 Mar 17.
2008
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| 9 | LAMA2, MDC1A
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| LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
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| Siala O, Louhichi N, Triki C, Moriničre M, Fakhfakh F, Baklouti F.
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| Neuromuscul Disord 18(2):137-45. Epub 2007 Nov 28.PMID: 18053718 2008
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| 10 | LAMA1, LAMA2, MDC1A
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| Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy.
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| Gawlik KI, Li JY, Petersen A, Durbeej M.
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| Hum Mol Genet 15(18):2690-700. Epub 2006 Aug 7. 2006
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| 11 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 12 | MDC1A, LMNA, FKTN, FCMD
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| Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
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| Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
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| Biochem Biophys Res Commun 342(2):489-502. Epub 2006 Feb 3. 2006
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| 13 | MDC1A, BCL2
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| Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice.
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| Dominov JA, Kravetz AJ, Ardelt M, Kostek CA, Beermann ML, Miller JB.
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| Hum Mol Genet 14(8):1029-40. Epub 2005 Mar 9. 2005
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| 14 | LAMA2, MDC1A
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| LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
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| Prandini P, Berardinelli A, Fanin M, Morello F, Zardini E, Pichiecchio A, Uggetti C, Lanzi G, Angelini C, Pegoraro E.
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| Neurology 63(6):1118-21. 2004
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| 15 | MDC1A
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| Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
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| Allamand V, Guicheney P.
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| Eur J Hum Genet 10(2):91-4. 2002
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| 16 | LAMA3, MDC1A
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| The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
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| Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.
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| J Med Genet 38(10):649-57. 2001
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| 17 | LAMA2, MDC1A
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| Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
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| Naom I, D'alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F.
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| Brain 123 ( Pt 1):31-41. 2000
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| 18 | LAMA2, MDC1A
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| Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
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| D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F.
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| Hum Genet 105(4):308-13. 1999
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| 19 | MDC1A
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| Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders : the expanding concept.
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| Mackay MT, Kornberg AJ, Shield L, Phelan E, Kean MJ, Coleman LT, Dennett X.
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| J Child Neurol 13 : 481-487. 1998
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| 20 | LAMA2, MDC1A
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| Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
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| Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.
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| Neuromuscul Disord 8 : 495-501. 1998
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| 21 | LAMA2, MDC1A
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| Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
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| Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F.
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| J Med Genet 34(2):99-104. 1997
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| 22 | LAMA2, MDC1A
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| Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain.
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| Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP.
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| Hum Mol Genet 6(5):747-52. 1997
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| 23 | LAMA2, MDC1A
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| Localization of laminin chains in the human retina : possible implications for congenital muscular dystrophy associated with alpha2-chain of laminin deficiency.
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| Toti P, De Felice C, Malandrini A, Megha T, Cardone C, Villanova M.
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| Neuromuscul Disord 7(1):21-5. 1997
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| 24 | LAMA2, MDC1A
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| Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
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| Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tome FM, Schwartz K, Tryggvason K, Guicheney P.
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| Am J Hum Genet 58(6):1177-84. 1996
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| 25 | MDC1A
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| Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
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| Pegoraro E, et al.
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| Ann Neurol 40 : 782-791. 1996
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| 26 | MDC1A, LAMA2
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| Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.
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| Hayashi YK, Koga R, Tsukahara T, Ishii H, Matsuishi T, Yamashita Y, Nonaka I, Arahata K.
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| Muscle Nerve 18(9):1027-30. 1995
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| 27 | LAMA2, MDC1A
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| Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
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| Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al.
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| Nat Genet 11(2):216-8. 1995
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| 28 | LAMA2, MDC1A
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| Readjusting the localization of merosin (laminin alpha2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
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| Helbling-Leclerc A, Topaloglu H, Tome FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B, et al.
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| C R Acad Sci III 318(12):1245-52. 1995
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| 29 | MDC1A
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| Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
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| Hillaire D, et al.
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| Hum Mol Genet 3 : 1657-1661. 1994
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| 30 | MDC1A
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| Congenital muscular dystrophy with merosin deficiency.
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| Tom FMS, et al.
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| C R Acad Sci III 317 : 351-357. 1994
|