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

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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Bibliographic Details
Main Authors: Massimiliano Filosto, Stefano Cotti Piccinelli, Ilaria Palmieri, Nicola Necchini, Marialuisa Valente, Isabella Zanella, Giorgio Biasiotto, Diego Di Lorenzo, Cristina Cereda, Alessandro Padovani
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:Journal of Clinical Medicine
Subjects:
ALS
hereditary spastic paraplegias
HSP
KIF5A
SPG10
axonal neuropathy
Online Access:http://www.mdpi.com/2077-0383/8/1/17

Internet

http://www.mdpi.com/2077-0383/8/1/17

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