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Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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. Bello L, et al. Among authors: vianello a. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. Pegoraro E, et al. Among authors: vianello a. Neuromuscul Disord. 2007 Apr;17(4):321-9. doi: 10.1016/j.nmd.2007.01.010. Epub 2007 Mar 2. Neuromuscul Disord. 2007. PMID: 17336526
Consensus statement on standard of care for congenital muscular dystrophies.
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy. Wang CH, et al. Among authors: vianello a. J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15. J Child Neurol. 2010. PMID: 21078917 Free PMC article. Review.
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
439 results