A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

KIF5A encodes the heavy chain A of kinesin; A motor protein involved in motility functions within neuron. Mutations in the KIF5A N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases. Re...

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Detalles Bibliográficos
Autores principales: Filosto, Massimiliano, Piccinelli, Stefano Cotti, Palmieri, Ilaria, Necchini, Nicola, Valente, Marialuisa, Zanella, Isabella, Biasiotto, Giorgio, Lorenzo, Diego Di, Cereda, Cristina, Padovani, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352268/
https://www.ncbi.nlm.nih.gov/pubmed/30583522
http://dx.doi.org/10.3390/jcm8010017

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