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Publication:
COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy.

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cris.virtual.author-orcid0000-0003-0553-4880
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cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
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dc.contributor.authorBrands, Jan
dc.contributor.authorSteffen, Frank
dc.contributor.authorSpennes, Jochen
dc.contributor.authorLeeb, Tosso
dc.contributor.authorBilzer, Thomas
dc.date.accessioned2024-09-02T16:45:28Z
dc.date.available2024-09-02T16:45:28Z
dc.date.issued2021-04
dc.description.abstractINTRODUCTION 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.
dc.description.numberOfPages9
dc.description.sponsorshipInstitut für Genetik
dc.identifier.doi10.48350/150633
dc.identifier.pmid33382107
dc.identifier.publisherDOI10.1002/mus.27162
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/39309
dc.language.isoen
dc.publisherJohn Wiley & Sons
dc.relation.ispartofMuscle & nerve
dc.relation.issn0148-639X
dc.relation.organizationDCD5A442C13CE17DE0405C82790C4DE2
dc.subjectCanis lupus familaris Ullrich congenital muscular dystrophy animal model collagen VI
dc.subject.ddc500 - Science::590 - Animals (Zoology)
dc.subject.ddc600 - Technology::630 - Agriculture
dc.subject.ddc500 - Science::570 - Life sciences; biology
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleCOL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy.
dc.typearticle
dspace.entity.typePublication
oaire.citation.endPage616
oaire.citation.issue4
oaire.citation.startPage608
oaire.citation.volume63
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oairecerif.author.affiliationInstitut für Genetik
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unibe.contributor.rolecreator
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unibe.date.embargoChanged2022-01-01 23:25:14
unibe.date.licenseChanged2021-01-05 13:27:16
unibe.description.ispublishedpub
unibe.eprints.legacyId150633
unibe.journal.abbrevTitleMUSCLE NERVE
unibe.refereedTRUE
unibe.subtype.articlejournal

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