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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...

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Detalles Bibliográficos
Autores principales: Chou, Ying‐Tsen, Hsu, Shao‐Lun, Tsai, Yu‐Shuen, Lu, Yi‐Jiun, Yu, Kai‐Wei, Wu, Hsiu‐Mei, Liao, Yi‐Chu, Lee, Yi‐Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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