EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy

2009 ◽  
Vol 19 (8-9) ◽  
pp. 607
Author(s):  
E. Martoni ◽  
A. Urciuolo ◽  
C. Trabanelli ◽  
M. Fabris ◽  
P. Sabatelli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Collagen Type ◽  
Congenital Muscular Dystrophy ◽  
Splicing Mutations ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Collagen Type Vi

scholarly journals Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

2009 ◽  
Vol 30 (5) ◽  
pp. E662-E672 ◽  
Author(s):  
Elena Martoni ◽  
Anna Urciuolo ◽  
Patrizia Sabatelli ◽  
Marina Fabris ◽  
Matteo Bovolenta ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Splicing Mutations ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Identification And Characterization

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

2017 ◽  
Vol 32 (14) ◽  
pp. 1099-1103
Author(s):  
Biswaroop Chakrabarty ◽  
M. C. Sharma ◽  
Sheffali Gulati ◽  
Chitra Sarkar
Keyword(s):  
Muscular Dystrophy ◽  
Observational Study ◽  
Skin Biopsy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 845
Author(s):  
P. Richard ◽  
C. Ledeuil ◽  
C. Gartioux ◽  
L. Torrieri ◽  
L. Briñas ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Successful Heart Transplantation From a Donor With Ullrich Congenital Muscular Dystrophy

2013 ◽  
Vol 13 (7) ◽  
pp. 1915-1917 ◽  
Author(s):  
C. Plonka ◽  
P. D. Wearden ◽  
V. O. Morell ◽  
S. A. Miller ◽  
S. A. Webber ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Heart Transplantation ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy – case studies

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Juliana Aparecida Rhein Telles ◽  
Mariana Calil Voos ◽  
Isabella Pessa Anequini ◽  
Francis Meire Favero ◽  
Thiago Henrique Silva ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Case Studies ◽  
Congenital Muscular Dystrophy ◽  
Functional Differences ◽  
Ullrich Congenital Muscular Dystrophy
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