Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report
This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.
Authors
- Ursula Gies
- Karsten Witt (ORCID: https://orcid.org/0000-0002-9384-3474)
- Johannes Stalter (ORCID: https://orcid.org/0000-0002-6760-7152)
- Christian Mathys (ORCID: https://orcid.org/0000-0002-5245-4958)
Institutions
- Carl von Ossietzky Universität Oldenburg (DE)
- Pius Hospital Oldenburg (DE)
- Evangelisches Krankenhaus Oldenburg (DE)
- Klinikum Bremen-Mitte (DE)
- Heinrich Heine University Düsseldorf (DE)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1186/s13256-024-04802-x
- Citations
- 2
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Carl von Ossietzky Universität Oldenburg