Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity
ABSTRACT Background Spastic Paraplegia Type 78 (SPG78) is a rare form of hereditary spastic paraplegia (HSP), mainly characterized by late‐onset lower‐limb spasticity, muscle weakness, and in some cases cerebellar dysfunction and cognitive impairment. Understanding its genetic background is essentia...
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| Main Authors: | R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. Seiti Yamanaka, J. D. Arroyo Andújar |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70073 |
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