| 1 | LGMD2K, POMT1
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| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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| Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
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| Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
2012
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| 2 | LGMD2K, POMT1
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| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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| Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
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| Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
2012
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| 3 | LGMD2K, WLKWS1, POMT1
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| The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
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| van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.
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| Hum Mutat 27(5):453-9. 2006
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