Glycogenosis type XI, a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology
Our combined data expand the current genetic landscape of LDHA-related disease, confirms the concept of a metabolic-driven vacuolar myopathy and provides insights into the biochemical nature of myopathology.
Authors
- Emmanuelle Lacène
- Teresinha Evangelista (ORCID: https://orcid.org/0000-0002-1329-9131)
- Norma B. Romero (ORCID: https://orcid.org/0000-0001-7714-0069)
- Andreas Hentschel (ORCID: https://orcid.org/0000-0002-0272-9220)
- Yves Fromes (ORCID: https://orcid.org/0000-0002-6792-9549)
- Jean‐Marc Boisserie
- Guy Brochier (ORCID: https://orcid.org/0000-0001-6241-8363)
- Andreas Roos
Institutions
- University of Ottawa (CA)
- Children's Hospital of Eastern Ontario (CA)
- Ottawa Hospital (CA)
- Sorbonne Université (FR)
- Institut de Myologie (FR)
- Leibniz Institute for Analytical Sciences - ISAS (DE)
- Pitié-Salpêtrière Hospital (FR)
- Heinrich Heine University Düsseldorf (DE)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1177/22143602241296248
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67