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Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
Hereditary spastic paraplegia (HSP) represents a group of rare inherited neurodegenerative conditions and is characterized by progressive lower limb spasticity. Ubiquitin-associated protein 1 (UBAP1)-related HSP is classified as spastic paraplegia-80 (SPG80), which is an autosomal-dominant (AD) juve...
| Những tác giả chính: | , , , , , , , , , |
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| Định dạng: | Online Bài viết Texto |
| Ngôn ngữ: | English |
| Được phát hành: |
Frontiers Media S.A.
2022
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| Những chủ đề: | |
| Truy cập trực tuyến: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936171/ https://www.ncbi.nlm.nih.gov/pubmed/35321509 http://dx.doi.org/10.3389/fneur.2022.820202 |