A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review
Abstract Background Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII‐complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several ind...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2222 |