New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Severe Phenotype ◽

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

Annals of Clinical Neurophysiology ◽

10.14253/acn.2018.20.2.89 ◽

2018 ◽

Vol 20 (2) ◽

pp. 89

Author(s):

Young-Eun Park ◽

Jin-Hong Shin ◽

Hyang-Sook Kim ◽

Dae-Seong Kim

Keyword(s):

Muscular Dystrophy ◽

Severe Phenotype ◽

Recessive Mutations ◽

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

Muscle & Nerve ◽

10.1002/mus.27162 ◽

2020 ◽

Author(s):

Jan Brands ◽

Frank Steffen ◽

Jochen Spennes ◽

Tosso Leeb ◽

Thomas Bilzer

Keyword(s):

Muscular Dystrophy ◽

Canine Model ◽

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

Neuromuscular Disorders ◽

10.1016/j.nmd.2017.06.055 ◽

2017 ◽

Vol 27 ◽

pp. S106

Author(s):

A. Reghan Foley ◽

S. Donkervoort ◽

V. Bolduc ◽

Y. Hu ◽

B. Cummings ◽

...

Keyword(s):

Muscular Dystrophy ◽

Distinct Phenotype ◽

Ullrich Congenital Muscular Dystrophy (Ullrich disease)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_17718 ◽

2008 ◽

pp. 2059-2059

Keyword(s):

Muscular Dystrophy ◽

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

Journal of Child Neurology ◽

10.1177/0883073817738466 ◽

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 ◽

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

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.06.282 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 845

Author(s):

P. Richard ◽

C. Ledeuil ◽

C. Gartioux ◽

L. Torrieri ◽

L. Briñas ◽

...

Keyword(s):

Muscular Dystrophy ◽

P.1.10 siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich Congenital muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2013.06.394 ◽

2013 ◽

Vol 23 (9-10) ◽

pp. 744

Author(s):

V. Bolduc ◽

Y. Zou ◽

C.G. Bonnemann

Keyword(s):

Muscular Dystrophy ◽

Dominant Negative ◽

Ullrich Congenital Muscular Dystrophy ◽

Allele Specific

Mouse model of dominant Ullrich congenital muscular dystrophy (UCMD)

Science-Business eXchange ◽

10.1038/scibx.2014.382 ◽

2014 ◽

Vol 7 (13) ◽

pp. 382-382

Keyword(s):

Muscular Dystrophy ◽

Mouse Model ◽

Successful Heart Transplantation From a Donor With Ullrich Congenital Muscular Dystrophy

American Journal of Transplantation ◽

10.1111/ajt.12246 ◽

2013 ◽

Vol 13 (7) ◽

pp. 1915-1917 ◽

Cited By ~ 2

Author(s):

C. Plonka ◽

P. D. Wearden ◽

V. O. Morell ◽

S. A. Miller ◽

S. A. Webber ◽

...

Keyword(s):

Muscular Dystrophy ◽

Heart Transplantation ◽

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

Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento ◽

10.5935/cadernosdisturbios.v18n1p148-163 ◽

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 ◽

Functional Differences ◽