Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

BACKGROUND: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. CASE PRESENTATION: We report the long-term follow-up of a 19 years-old boy...

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Detalles Bibliográficos
Autores principales: Spagnoli, Carlotta, Rizzi, Susanna, Salerno, Grazia Gabriella, Frattini, Daniele, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892221/
https://www.ncbi.nlm.nih.gov/pubmed/31796088
http://dx.doi.org/10.1186/s13052-019-0752-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892221/
https://www.ncbi.nlm.nih.gov/pubmed/31796088
http://dx.doi.org/10.1186/s13052-019-0752-5

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