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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: dubowitz v. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074
Expression of laminin subunits in congenital muscular dystrophy.
Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V. Sewry CA, et al. Among authors: dubowitz v. Neuromuscul Disord. 1995 Jul;5(4):307-16. doi: 10.1016/0960-8966(94)00072-h. Neuromuscul Disord. 1995. PMID: 7580244
430 results