| 1 | COL6A2, UCMD1
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| Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
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| Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SK, Bönnemann CG, Chu ML.
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| J Biol Chem 285(13):10005-15. Epub 2010 Jan 27. 2010
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| 2 | COL6A2, UCMD1
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| Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
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| Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.
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| Hum Mutat 30(5):E662-72.PMID: 19309692 2009
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| 3 | COL6A1, COL6A2, COL6A3, UCMD1, UCMD2, UCMD3, BTHM1, BTHM2
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| Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
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| Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bnnemann CG.
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| Hum Mutat 29(6):809-22. 2008
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| 4 | UCMD1, UCMD2, UCMD3
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| Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
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| Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P.
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| Proc Natl Acad Sci U S A 104(3):991-6. Epub 2007 Jan 10. 2007
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| 5 | UCMD1, UCMD2, UCMD3, COL6A2,COL6A3
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| Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
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| Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR.
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| Hum Mol Genet 14(2):279-93. Epub 2004 Nov 24. 2005
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| 6 | BTHM1, BTHM2, COL6A1, COL6A2, COL6A3, UCMD1, UCMD2, UCMD3
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| Collagen VI related muscle disorders.
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| Lampe AK, Bushby KM.
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| J Med Genet 42(9):673-85. 2005
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| 7 | BTHM1, UCMD1, COL6A2
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| A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
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| Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML.
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| Hum Genet 117(5):460-6. Epub 2005 Jun 17. 2005
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| 8 | COL6A1, COL6A2, UCMD1, UCMD2, COL6A3, UCMD3
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| Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
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| Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
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| Am J Hum Genet 70(6):1446-58. Epub 2002 Apr 24. 2002
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| 9 | UCMD1, COL6A2
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| Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
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| Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.
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| Neurology 58(9):1354-9. 2002
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