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Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

PURPOSE OF REVIEW: The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP. RECENT FINDINGS: There is a large and rapidly expanding list of...

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Detalles Bibliográficos
Autores principales: Saputra, Lydia, Kumar, Kishore Raj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921051/
https://www.ncbi.nlm.nih.gov/pubmed/33646413
http://dx.doi.org/10.1007/s11910-021-01099-x