| 1 | B3GALNT2, MDC1D
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| Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan.
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| Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.
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| Am J Hum Genet 92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.
2013
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| 2 | LARGE, MDC1D
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| Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
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| Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P.
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| Eur J Hum Genet 19(4):452-7. Epub 2011 Jan 19.
2011
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| 3 | LARGE, MDC1D, GYLTL1B
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| Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
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| Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F.
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| Hum Mol Genet 14(5):657-65. Epub 2005 Jan 20. 2005
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| 4 | LARGE, MDC1D
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| LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
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| Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
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| Nat Med 10(7):696-703. Epub 2004 Jun 06. 2004
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| 5 | LARGE, MDC1D
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| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
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| Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.
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| Hum Mol Genet 12(21):2853-2861. Epub 2003 Sep 09. 2003
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