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Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Domazetovska A, Ilkovski B, Kumar V, Valova VA, Vandebrouck A, Hutchinson DO, Robinson PJ, Cooper ST, Sparrow JC, Peckham M, North KN. Domazetovska A, et al. Among authors: vandebrouck a. Ann Neurol. 2007 Dec;62(6):597-608. doi: 10.1002/ana.21200. Ann Neurol. 2007. PMID: 17705262
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P. Clarke NF, et al. Among authors: vandebrouck a. Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248746 Free PMC article.
12 results