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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. 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 COL6A1 gene encoding the alpha-1 chain of collagen VI. 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. The clinical and pathological characterization of the affected Landseer dogs enhances the value of this animal model for human Ullrich congenital muscular dystrophy.
Jan Brands, and
Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
April 2014,
Annals of rehabilitation medicine,
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Jochen Spennes, and
Tosso Leeb, and
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Methods in molecular biology (Clifton, N.J.),
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Jochen Spennes, and
Tosso Leeb, and
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Annals of neurology,
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Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
September 2005,
Annals of neurology,
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Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
March 2021,
BMC neurology,
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Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
January 2012,
Jornal de pediatria,
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Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
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American journal of human genetics,
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Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
July 2007,
Neuromuscular disorders : NMD,
Jan Brands, and
Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
December 2008,
Neuromuscular disorders : NMD,
Jan Brands, and
Frank Steffen, and
Jochen Spennes, and
Tosso Leeb, and
Thomas Bilzer
July 2023,
Neuromuscular disorders : NMD,
