Brands, Jan; Steffen, Frank; Spennes, Jochen; Leeb, Tosso; Bilzer, Thomas (2021). COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. Muscle & nerve, 63(4), pp. 608-616. John Wiley & Sons 10.1002/mus.27162
|
Text
epub__mus.27162.pdf - Accepted Version Available under License Publisher holds Copyright. Download (9MB) | Preview |
INTRODUCTION
Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs.
MATERIALS
We collected clinical data from 2 affected dogs and investigated the neuromuscular changes in 5 dogs from 2 different litters with immunohistochemistry and immunofluorescence. All affected dogs were homozygous for the p.Glu97* nonsense variant in the COL6A1 gene encoding the alpha-1 chain of collagen VI.
RESULTS
Muscle biopsies revealed alterations similar to those in human patients with Ullrich congenital muscular dystrophy including the virtual absence of collagen VI in skeletal muscles.
DISCUSSION
The clinical and pathological characterization of the affected Landseer dogs enhances the value of this animal model for human Ullrich congenital muscular dystrophy. This article is protected by copyright. All rights reserved.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics |
UniBE Contributor: |
Leeb, Tosso |
Subjects: |
500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture 500 Science > 570 Life sciences; biology 600 Technology > 610 Medicine & health |
ISSN: |
0148-639X |
Publisher: |
John Wiley & Sons |
Language: |
English |
Submitter: |
Tosso Leeb |
Date Deposited: |
05 Jan 2021 14:28 |
Last Modified: |
05 Dec 2022 15:43 |
Publisher DOI: |
10.1002/mus.27162 |
PubMed ID: |
33382107 |
Uncontrolled Keywords: |
Canis lupus familaris Ullrich congenital muscular dystrophy animal model collagen VI |
BORIS DOI: |
10.48350/150633 |
URI: |
https://boris.unibe.ch/id/eprint/150633 |
Actions (login required)
 |
Edit item |