Hereditary spastic paraplegia with novel SPG11 mutation from India: expanding the genotypic spectrum
Abstract Background Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC) linked to SPG11 mutations represents a significant subtype of complex HSP. While numerous SPG11 variants have been reported globally, the genetic spectrum continues to expand, particularly in underrepresented popul...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SpringerOpen
2025-09-01
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| coleção: | Egyptian Journal of Medical Human Genetics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s43042-025-00784-7 |
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