| 1 | 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, Bšnnemann CG.
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| Hum Mutat 29(6):809-22. 2008
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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | UCMD3, COL6A1
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| Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
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| Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G.
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| Ann Neurol 58(3):400-10. 2005
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| 6 | COL6A1, UCMD3
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| New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
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| Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML.
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| Am J Hum Genet 73(2):355-69. Epub 2003 Jul 01. 2003
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| 7 | 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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| 8 | COL6A3, UCMD3
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| Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.
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| Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I.
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| Neurology 59(6):920-3. 2002
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