| 1 | FKTN, LGMD2N
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| A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.
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| Riisager M, Duno M, Hansen FJ, Krag TO, Vissing CR, Vissing J.
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| Neuromuscul Disord 23(7):562-7. doi: 10.1016/j.nmd.2013.04.006. Epub 2013 Jun 6.
2013
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| 2 | LGMD2N, MDDGB3, MDDGC3, POMGNT1, POMT2
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| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
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| Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.
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| Neurology 72(21):1802-9. Epub 2009 Mar 18.PMID: 19299310 2009
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| 3 | POMT2, LGMD2N
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| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
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| Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 363(4):1033-7. Epub 2007 Sep 25. 2007
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| 4 | LGMD2N, POMT2
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| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
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| Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 363(4):1033-7. Epub 2007 Sep 25.PMID: 17923109 2007
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