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251 results
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Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Jungbluth H, et al. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Orphanet J Rare Dis. 2008. PMID: 18817572 Free PMC article. Review.
An unusual case of hyperekplexia.
Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489
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. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074
251 results