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Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia
OBJECTIVE: Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by slowly progressive lower limb spasticity and weakness. HSP type 54 (SPG54) is autosomal recessively inherited and caused by mutations in the DDHD2 gene. This study investigated the...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502669/ https://www.ncbi.nlm.nih.gov/pubmed/37420318 http://dx.doi.org/10.1002/acn3.51850 |