Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

2007 ◽  
Vol 17 (7) ◽  
pp. 547-557 ◽  
Author(s):  
Rachel A. Peat ◽  
Naomi L. Baker ◽  
Kristi J. Jones ◽  
Kathryn N. North ◽  
Shireen R. Lamandé
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Genetic Counselling ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Variable Penetrance

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

2004 ◽  
Vol 24 (6) ◽  
pp. 440-444 ◽  
Author(s):  
Martin Brockington ◽  
Susan C. Brown ◽  
Anne Lampe ◽  
Yeliz Yuva ◽  
Lucy Feng ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Haplotype Analysis ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis

1996 ◽  
Vol 66 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Eri Kondo ◽  
Kayoko Saito ◽  
Tatsushi Toda ◽  
Makiko Osawa ◽  
Tomoko Yamamoto ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Polymorphism Analysis

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

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

2005 ◽  
Vol 15 (9-10) ◽  
pp. 588-594 ◽  
Author(s):  
Mariz Vainzof ◽  
Pascale Richard ◽  
Ralf Herrmann ◽  
Cecilia Jimenez-Mallebrera ◽  
Beril Talim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Collective Experience ◽  
Laminin Α2
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