scholarly journals Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report

2022 ◽  
Vol 10 (1) ◽  
pp. 338-344
Author(s):  
Jun Hu ◽  
Yan-Hui Chen ◽  
Xin Fang ◽  
Yu Zhou ◽  
Feng Chen
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Clinical Manifestations ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

2013 ◽  
Vol 14 (1) ◽  
Author(s):  
Elena Martoni ◽  
Stefania Petrini ◽  
Cecilia Trabanelli ◽  
Patrizia Sabatelli ◽  
Anna Urciuolo ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Rare Case ◽  
Congenital Muscular Dystrophy ◽  
Terminal Domain ◽  
Ullrich Congenital Muscular Dystrophy

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

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

A rare case report: Bethlem myopathy and ullrich congenital muscular dystrophy

2017 ◽  
Vol 381 ◽  
pp. 272
Author(s):  
P.R. Tamura ◽  
R. Iegoroff ◽  
L.P. Crotti ◽  
A.J. Godoy
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Rare Case ◽  
Congenital Muscular Dystrophy ◽  
Bethlem Myopathy ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Rare Case Report

scholarly journals COL6A1 related muscular dystrophy in Landseer dogs – a canine model for Ullrich congenital muscular dystrophy

2020 ◽  
Author(s):  
Jan Brands ◽  
Frank Steffen ◽  
Jochen Spennes ◽  
Tosso Leeb ◽  
Thomas Bilzer
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Canine Model ◽  
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

A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S106
Author(s):  
A. Reghan Foley ◽  
S. Donkervoort ◽  
V. Bolduc ◽  
Y. Hu ◽  
B. Cummings ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Distinct Phenotype ◽  
Ullrich Congenital Muscular Dystrophy
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