scholarly journals Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

2018 ◽  
Vol 20 (2) ◽  
pp. 89
Author(s):  
Young-Eun Park ◽  
Jin-Hong Shin ◽  
Hyang-Sook Kim ◽  
Dae-Seong Kim
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Severe Phenotype ◽  
Recessive Mutations ◽  
Ullrich Congenital Muscular Dystrophy

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

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy

2017 ◽  
Vol 27 (11) ◽  
pp. 1018-1022 ◽  
Author(s):  
Liang Wu ◽  
Bingwu Xiang ◽  
Huan Zhang ◽  
Xiaoxiao He ◽  
Celina Shih ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Single Case ◽  
Congenital Muscular Dystrophy ◽  
Recessive Mutations

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
Sign in / Sign up

Export Citation Format

Share Document