| 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 | BTHM1, BTHM2
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| Cardiac and pulmonary investigations in Bethlem myopathy.
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| van der Kooi AJ, de Voogt WG, Bertini E, Merlini L, Talim FB, Ben Yaou R, Urtziberea A, de Visser M.
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| Arch Neurol 63(11):1617-21.
2006
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| 3 | 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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| 4 | 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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| 5 | COL6A1, BTHM1
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| Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
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| Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G.
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| Neurology 64(11):1931-7. 2005
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| 6 | COL6A1, BTHM1
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| Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
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| Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G.
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| Muscle Nerve 25(4):513-9. 2002
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| 7 | BTHM1, COL6A1
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| A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
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| Pepe G, et al.
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| Biochem Biophys Res Commun 258(3):802-7. 1999
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| 8 | LAMB1, BTHM1
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| Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.
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| Merlini L, Villanova M, Sabatelli P, Malandrini A, Maraldi NM.
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| Neuromuscul Disord 9(5):326-9 1999
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| 9 | BTHM1, BTHM2, COL6A1, COL6A3
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| Collagen VI deficiency induces early onset myopathy in the mouse : an animal model for Bethlem myopathy.
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| Bonaldo P, et al.
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| Hum Mol Genet 7 : 2135-2140. 1998
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| 10 | BTHM1
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| Genetic localization of Bethlem myopathy.
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| Jšbsis GJ, et al.
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| Neurology 46 : 779-782. 1996
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| 11 | COL6A1, COL6A2, BTHM1
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| Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
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| Jšbsis GJ, et al.
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| Nat Genet 14 : 113-115. 1996
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