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Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V. Johari M, et al. Among authors: ravenscroft g. medRxiv [Preprint]. 2024 Feb 11:2024.02.10.24302480. doi: 10.1101/2024.02.10.24302480. medRxiv. 2024. Update in: J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970 PMID: 38370827 Free PMC article. Updated. Preprint.
Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.
Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clément S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. Nowak KJ, et al. Among authors: ravenscroft g. J Cell Biol. 2009 Jun 1;185(5):903-15. doi: 10.1083/jcb.200812132. Epub 2009 May 25. J Cell Biol. 2009. PMID: 19468071 Free PMC article.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: ravenscroft g. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
134 results