Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Delbaere, Sarah; Dhooge, Tibbe; Syx, Delfien; Petit, Florence; Goemans, Nathalie; Destrée, Anne; Vanakker, Olivier; De Rycke, Riet; Symoens, Sofie; Malfait, Fransiska

Delbaere, Sarah; Dhooge, Tibbe; Syx, Delfien; Petit, Florence; Goemans, Nathalie; Destrée, Anne; Vanakker, Olivier; De Rycke, Riet; Symoens, Sofie; Malfait, Fransiska.

Affiliation

Delbaere S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Dhooge T; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Syx D; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Petit F; Department of Clinical Genetics, CHU Lille, Université Lille, Lille, France.
Goemans N; Department of Child Neurology, University Hospital Leuven, Leuven, Belgium.
Destrée A; Department of Development and Regeneration, University of Leuven, Leuven, Belgium.
Vanakker O; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rycke R; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Symoens S; Department of Biomedical Molecular Biology and Expertise Centre for Transmission Electron Microscopy, Ghent University, Ghent, Belgium.
Malfait F; Center for Inflammation Research and BioImaging Core, VIB, Ghent, Belgium.

Genet Med ; 22(1): 112-123, 2020 01.

Article in En | MEDLINE | ID: mdl-31273343

Subject(s)

Collagen Type VI/genetics; Collagen Type XII/genetics; Ehlers-Danlos Syndrome/genetics; High-Throughput Nucleotide Sequencing/methods; Muscular Diseases/genetics; Mutation; Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Collagen Type V/metabolism; Collagen Type VI/chemistry; Collagen Type XII/chemistry; Decorin/metabolism; Ehlers-Danlos Syndrome/metabolism; Extracellular Matrix/metabolism; Female; Humans; Male; Muscular Diseases/metabolism; Pedigree; Protein Domains; Sequence Analysis, DNA; Tenascin/metabolism

Key words

collagen VI; collagen XII; connective tissue; myopathic EhlersDanlos syndrome; myopathy

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Full text: 1 Database: MEDLINE Main subject: Collagen Type VI / Collagen Type XII / Ehlers-Danlos Syndrome / High-Throughput Nucleotide Sequencing / Muscular Diseases / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2020 Type: Article

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