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6. Autosomal recessive inheritance of classic Bethlem myopathy. Foley AR; Hu Y; Zou Y; Columbus A; Shoffner J; Dunn DM; Weiss RB; Bönnemann CG Neuromuscul Disord; 2009 Dec; 19(12):813-7. PubMed ID: 19884007 [TBL] [Abstract][Full Text] [Related]
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10. 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]
11. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Baker NL; Mörgelin M; Pace RA; Peat RA; Adams NE; Gardner RJ; Rowland LP; Miller G; De Jonghe P; Ceulemans B; Hannibal MC; Edwards M; Thompson EM; Jacobson R; Quinlivan RC; Aftimos S; Kornberg AJ; North KN; Bateman JF; Lamandé SR Ann Neurol; 2007 Oct; 62(4):390-405. PubMed ID: 17886299 [TBL] [Abstract][Full Text] [Related]
12. Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands. Goebel HH; Anderson JR Neuromuscul Disord; 1999 Jan; 9(1):50-7. PubMed ID: 10063836 [No Abstract] [Full Text] [Related]
13. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. Kim SY; Kim WJ; Kim H; Choi SA; Lee JS; Cho A; Jang SS; Lim BC; Kim KJ; Kim JI; Hahn SH; Chae JH Muscle Nerve; 2018 Sep; 58(3):381-388. PubMed ID: 29406609 [TBL] [Abstract][Full Text] [Related]
15. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Vanegas OC; Zhang RZ; Sabatelli P; Lattanzi G; Bencivenga P; Giusti B; Columbaro M; Chu ML; Merlini L; Pepe G Muscle Nerve; 2002 Apr; 25(4):513-9. PubMed ID: 11932968 [TBL] [Abstract][Full Text] [Related]
16. Forty-five years to diagnosis. Erdmann J; Schunkert H Neuromuscul Disord; 2013 Jun; 23(6):503-5. PubMed ID: 23623466 [TBL] [Abstract][Full Text] [Related]
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18. 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]
19. Collagen VI related muscle disorders. Lampe AK; Bushby KM J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002 [TBL] [Abstract][Full Text] [Related]
20. 156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands. Goebel HH; Fardeau M; Olivé M; Schröder R Neuromuscul Disord; 2008 Jul; 18(7):583-92. PubMed ID: 18595698 [No Abstract] [Full Text] [Related] [Next] [New Search]