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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: mcclelland v. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
Glutaric aciduria type 1 presenting with epilepsy.
McClelland VM, Bakalinova DB, Hendriksz C, Singh RP. McClelland VM, et al. Dev Med Child Neurol. 2009 Mar;51(3):235-9. doi: 10.1111/j.1469-8749.2008.03240.x. Dev Med Child Neurol. 2009. PMID: 19260933 Free article.
Glutaryl-CoA dehydrogenase deficiency.
McClelland VM, Gissen P, Hendriksz C, Chakrapani A. McClelland VM, et al. Pediatr Res. 2007 Jan;61(1):134; author reply 134-5. doi: 10.1203/01.pdr.0b013e31802d9ab4. Pediatr Res. 2007. PMID: 17211155 No abstract available.
38 results