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

scholarly journals Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity

2005 ◽  
Vol 63 (3b) ◽  
pp. 785-790 ◽  
Author(s):  
Umbertina Conti Reed ◽  
Lucio Gobbo Ferreira ◽  
Enna Cristina Liu ◽  
Maria Bernadete Dutra Resende ◽  
Mary Souza Carvalho ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Ventilatory Support ◽  
Congenital Muscular Dystrophy ◽  
Molecular Study ◽  
Collagen Vi ◽  
Bethlem Myopathy ◽  
Recessive Form ◽  
Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

2014 ◽  
Vol 10 (2) ◽  
pp. 126-132 ◽  
Author(s):  
Yan-Zhi Zhang ◽  
Dan-Hua Zhao ◽  
Hai-Po Yang ◽  
Ai-Jie Liu ◽  
Xing-Zhi Chang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Chinese Patients ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

2002 ◽  
Vol 277 (46) ◽  
pp. 43557-43564 ◽  
Author(s):  
Rui-Zhu Zhang ◽  
Patrizia Sabatelli ◽  
Te-Cheng Pan ◽  
Stefano Squarzoni ◽  
Elisabetta Mattioli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mrna Stability ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi ◽  
Ullrich Congenital Muscular Dystrophy
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