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Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

BACKGROUND: Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genet...

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Detalles Bibliográficos
Autores principales:	Klimkowicz-Mrowiec, Aleksandra, Dziubek, Anna, Sado, Malgorzata, Karpiński, Marek, Gorzkowska, Agnieszka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911268/ https://www.ncbi.nlm.nih.gov/pubmed/31837705 http://dx.doi.org/10.1186/s12883-019-1561-6

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