Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders
This study broadens the clinical and genetic landscape of MSP and related disorders in a Chinese cohort. These results emphasize the clinical utility of next-generation sequencing for improving diagnostic accuracy in patients with unexplained neuromuscular or cognitive presentations, especially in the presence of multisystem involvement.
Authors
- Ming Zhang (ORCID: https://orcid.org/0000-0002-4491-8927)
- Kai Qiao (ORCID: https://orcid.org/0000-0001-7057-9562)
- Chongbo Zhao
- Yi Dong
- Xi Chen
- Wenhua Zhu
- Yiming Sun
- Xingyu Xia
- Yan Chen
Institutions
- Fudan University (CN)
- Shanghai East Hospital (CN)
- Shanghai Sunshine Rehabilitation Center (CN)
- Huashan Hospital (CN)
Publication Details
- Journal
- Degenerative Neurological and Neuromuscular Disease
- Published
- 2026-02-01
- DOI
- https://doi.org/10.2147/dnnd.s568971
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fudan University
- Huashan Hospital