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Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study

The aim of the present study was to conduct a familial investigation and provide a genetic diagnosis to a family presenting with spastic paraplegia and clinically diagnosed with hereditary spastic paraplegia (HSP). Blood samples were obtained from the family, and mutations in the gene causing spinoc...

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Detalles Bibliográficos
Autores principales: SONG, YANMIN, LIU, YUNHAI, ZHANG, NING, LONG, LILI
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280951/
https://www.ncbi.nlm.nih.gov/pubmed/25574208
http://dx.doi.org/10.3892/etm.2014.2136