Expanding the Clinical, Pathological, and Molecular Spectrum of HSPB8-Neuromuscular Disorder (P12-11.028)
To describe 2 patients with HSPB8-neuromuscular disorder, one with childhood-onset and a novel variant, and the other with a novel presentation of a known pathogenic variant.
Authors
- Brendan Putko (ORCID: https://orcid.org/0000-0001-8500-2360)
- Teerin Liewluck (ORCID: https://orcid.org/0000-0002-0212-5697)
- Margherita Milone (ORCID: https://orcid.org/0000-0002-4338-9007)
- Eric J. Sorenson (ORCID: https://orcid.org/0009-0000-7773-7754)
Institutions
- Mayo Clinic in Arizona (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000212389
- Primary Topic
- Spaceflight effects on biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00