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Article

Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.

Genes & genomics - 1 Jan 2018

Nam Da Eun, Yoo Da Hye, Choi Sun Seong, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells. Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). This study identified three pathogenic KIF5A mutations in Korean CMT2 patients...

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PMID: 29892902
DOI: 10.1007/s13258-017-0612-x

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