Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia
Xiaoqin Yuan, Shanshan Zhang, Yufeng Tang · 2025
Read Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia by Xiaoqin Yuan, Shanshan Zhang, Yufeng Tang (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12838410.txt.
Description
Xiaoqin Yuan, Shanshan Zhang, and Yufeng Tang report a new gene variant in a Chinese family, in work from 2025. Hereditary spastic paraplegia covers many genetic diseases that stiffen and weaken the legs. Variants in one motor protein gene already link to several nerve diseases, but not yet to this family pattern.
Family members had full nerve exams, brain scans, and electrical studies of nerve and muscle. Whole exome sequencing found a rare missense change in that gene in the lead patient. Checks in parents and computer tools supported a likely harmful effect on the protein. Illness showed as dominant complex disease with strong spasticity and ataxia. The report widens the known range for this gene.
Catalog record
| CREATOR | Xiaoqin Yuan, Shanshan Zhang, Yufeng Tang |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 19 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |