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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: faure j. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: faure j. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
Rendu J, Brocard J, Denarier E, Monnier N, Piétri-Rouxel F, Beley C, Roux-Buisson N, Gilbert-Dussardier B, Perez MJ, Romero N, Garcia L, Lunardi J, Fauré J, Fourest-Lieuvin A, Marty I. Rendu J, et al. Among authors: faure j. Hum Gene Ther. 2013 Jul;24(7):702-13. doi: 10.1089/hum.2013.052. Hum Gene Ther. 2013. PMID: 23805838 Free PMC article.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: faure j. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: faure j. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
1,314 results