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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: Filosto, Massimiliano, Piccinelli, Stefano Cotti, Palmieri, Ilaria, Necchini, Nicola, Valente, Marialuisa, Zanella, Isabella, Biasiotto, Giorgio, Lorenzo, Diego Di, Cereda, Cristina, Padovani, Alessandro
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6352268/
https://ncbi.nlm.nih.gov/pubmed/30583522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8010017
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados