A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy
ObjectivesMutations in KIDINS220 are known to cause hereditary spastic paraplegia (HSP) and SINO syndrome. However, the phenotypic and genotypic spectrum of KIDINS220-related disorders remains incompletely understood. Herein, we describe the clinical, electrophysiological, histopathological, and gen...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2025-10-01
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| Серія: | Frontiers in Neuroscience |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fnins.2025.1684980/full |
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