title: Forty-five years to diagnosis.
abstract: A long lasting journey of almost 45 years led in the end to a diagnosis of a Collagen 6A myopathy. Modern information technology and next generation sequencing made the difference - a very personal report.
authors.affiliation: Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck, Ratzeburger Allee 160, D-23562 Lübeck, Germany. jeanette.erdmann@iieg.uni-luebeck.de
authors.forename: Jeanette
authors.initials: J
authors.lastname: Erdmann
authors.forename: Heribert
authors.initials: H
authors.lastname: Schunkert
mesh_terms: D024142:Collagen Type VI / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D035583:Rare Diseases / Q000175:diagnosis; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D024142:Collagen Type VI