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Dieser Artikel schildert die Neukonzeption eines Kurses für Erstsemesterstudierende der Medizin an der Universitätsbibliothek Würzburg unter Einbeziehung des Frameworks for Information Literacy for Higher Education (im Folgenden Framework genannt). Nach einleitenden Bemerkungen zur Theorie der Schwellenkonzepte und zum Framework selbst steht der Kursinhalt mit den dazugehörigen Frames, Knowledge Practices und Dispositions im Fokus. Die Auswertung der Evaluation und ein Ausblick auf die Umsetzung des Kurses in der coronabedingten digitalen Lehre bilden den Schluss.
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions. Here, we present a young woman who was strongly suspected of having a so far genetically unsolved sarcoglycanopathy based on her clinical history and muscle biopsy. Using short read whole genome sequencing (WGS), a homozygous inversion on chromosome 13 involving SGCG and LINC00621 was detected. The breakpoint in intron 2 of SGCG led to the absence of γ-sarcoglycan, resulting in the manifestation of autosomal recessive limb-girdle muscular dystrophy 5 (LGMDR5) in the young woman.