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6. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Mercuri E; Lampe A; Allsop J; Knight R; Pane M; Kinali M; Bonnemann C; Flanigan K; Lapini I; Bushby K; Pepe G; Muntoni F Neuromuscul Disord; 2005 Apr; 15(4):303-10. PubMed ID: 15792870 [TBL] [Abstract][Full Text] [Related]
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8. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Pepe G; Lucarini L; Zhang RZ; Pan TC; Giusti B; Quijano-Roy S; Gartioux C; Bushby KM; Guicheney P; Chu ML Ann Neurol; 2006 Jan; 59(1):190-5. PubMed ID: 16278855 [TBL] [Abstract][Full Text] [Related]
9. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation. Koppolu AA; Madej-Pilarczyk A; Rydzanicz M; Kosińska J; Gasperowicz P; Dorszewska J; Kozubski W; Steinborn B; Kochański AM; Płoski R Folia Neuropathol; 2017; 55(3):214-220. PubMed ID: 28984114 [TBL] [Abstract][Full Text] [Related]
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11. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Allamand V; Merlini L; Bushby K; Neuromuscul Disord; 2010 May; 20(5):346-54. PubMed ID: 20211562 [No Abstract] [Full Text] [Related]
12. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. Reed UC; Ferreira LG; Liu EC; Resende MB; Carvalho MS; Marie SK; Scaff M Arq Neuropsiquiatr; 2005 Sep; 63(3B):785-90. PubMed ID: 16258657 [TBL] [Abstract][Full Text] [Related]