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EDMD and other muscular diseases linked to the nuclear envelope
Emery-Dreifuss muscular dystrophy (EDMD) is a genetically variable neuromuscular disease that has so far been linked to eight nuclear envelope (NE) proteins. We identified several novel EDMD alleles in NE transmembrane proteins involved in genome organisation using a two-step sequencing approach. Our sequencing approach also revealed a clinical overlap to other inherited muscular diseases raising questions if diagnostics should be done based on the clinical manifestation or the gene mutated.
Date:
7 March 2016, 15:00
Venue:
Sir William Dunn School of Pathology, South Parks Road OX1 3RE
Venue Details:
EPA Seminar Room
Speaker:
Dr Peter Meinke (The Wellcome Trust Centre for Cell Biology, University of Edinburgh)
Organising department:
Sir William Dunn School of Pathology
Organisers:
Melissa Wright (University of Oxford, Sir William Dunn School of Pathology ),
Jo Peel (University of Oxford, Sir William Dunn School of Pathology),
Omer Dushek (University of Oxford, Sir William Dunn School of Pathology, Wolfson College),
Joanne Collett (University of Oxford, Sir William Dunn School of Pathology),
Anton van der Merwe (Sir William Dunn School of Pathology)
Organiser contact email address:
melissa.wright@path.ox.ac.uk
Host:
Professor David Vaux (University of Oxford, Sir William Dunn School of Pathology)
Part of:
Dunn School of Pathology Research Seminars
Booking required?:
Not required
Audience:
Members of the University only
Editor:
Melissa Wright
