{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T10:44:28Z","timestamp":1771065868361,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials<\/jats:title><jats:p>We collected clinical data from two affected dogs and investigated the neuromuscular changes in five dogs from two different litters with immunohistochemistry and immunofluorescence. All affected dogs were homozygous for the p.Glu97* nonsense variant in the <jats:italic>COL6A1<\/jats:italic> gene encoding the alpha\u20101 chain of collagen VI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The clinical and pathological characterization of the affected Landseer dogs enhances the value of this animal model for human Ullrich congenital muscular dystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27162","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T14:13:05Z","timestamp":1609423985000},"page":"608-616","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>COL6A1<\/i> related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy"],"prefix":"10.1002","volume":"63","author":[{"given":"Jan","family":"Brands","sequence":"first","affiliation":[{"name":"Institute of Neuropathology University Hospital D\u00fcsseldorf  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Steffen","sequence":"additional","affiliation":[{"name":"Neurology Service, Department of Small Animals, Vetsuisse Faculty University of Zurich  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Spennes","sequence":"additional","affiliation":[{"name":"Veterinary Clinic Kaiserberg  Duisburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Bilzer","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital D\u00fcsseldorf  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02864097"},{"key":"e_1_2_10_3_1","first-page":"502","article-title":"Kongenitale, atonisch\u2010skelerotische Muskeldystrophie","volume":"47","author":"Ullrich O","year":"1930","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/99.1.91"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329199"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-113"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.121027598"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/2044-5040-1-30"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.81"},{"key":"e_1_2_10_10_1","unstructured":"http:\/\/www.dmd.nl\/"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307052"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-5616(03)00081-0"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190394"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.12224"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.03.005"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.019"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90210-J"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2010.146"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12266"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40575-015-0019-4"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-017-0124-z"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/334154a0"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90206-7"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420320"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.115.021923"},{"key":"e_1_2_10_26_1","unstructured":"http:\/\/www.fci.be\/Nomenclature\/Standards\/050g02-en.pdf"},{"key":"e_1_2_10_27_1","doi-asserted-by":"crossref","unstructured":"Histological and histochemical changes. 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