Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review

RATIONALE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is bas...

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Detalles Bibliográficos
Autores principales: Richard, Sébastien, Lavie, Julie, Banneau, Guillaume, Voirand, Nathalie, Lavandier, Karine, Debouverie, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5279100/
https://www.ncbi.nlm.nih.gov/pubmed/28099355
http://dx.doi.org/10.1097/MD.0000000000005911

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