| 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 | BTHM2, UCMD2
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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, Bönnemann CG.
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| Hum Mutat 29(6):809-22. doi: 10.1002/humu.20704.
2008
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| 3 | BTHM2, COL6A3
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| Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
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| Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.
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| Ann Neurol 62(4):390-405.
2007
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| 4 | 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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| 5 | 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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| 6 | BTHM2, COL6A3
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| A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
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| Pepe G, et al.
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| Neuromuscul Disord 9(4):264-71 1999
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| 7 | BTHM2, COL6A3
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| Missense mutation in a von Willebrand factor type A domain of the alpha3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
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| Pan TC, et al.
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| Hum Mol Genet 7 : 807-812. 1998
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| 8 | BTHM2, COL6A2
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| Reduced collagen VI causes Bethlem myopathy : a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
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| LamandŽ SR, et al.
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| Hum Mol Genet 7 : 981-989. 1998
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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 | BTHM2, COL6A3
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| A G-A transition mutation in the N-terminal globular domain of COL6A3 leads to Bethlem myopathy. (abstr)
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| Speer MC, et al.
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| Am J Hum Genet 61 : A347. 1997
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| 11 | BTHM2
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| Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
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| Speer MC, et al.
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| Hum Mol Genet 5 : 1043-1046. 1996
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