- Case Report
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
- Theresa Paulus,
- Natalie Young,
- Emily Jessop,
- Carolin Berwanger,
- Christoph Stephan Clemen,
- Rolf Schröder,
- Rafal Ploski,
- Christian Hagel,
- Yorck Hellenbroich and
- Iakowos Karakesisoglou
- + 1 author
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-e...

