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Article

Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.

Clinical neuropathology - 1 Jan 2000

Du Kang, Meng Lingchao, Lv He, Zhang Wei, Wang Zhaoxia, Yuan Yun

Abstract excerpt

Kinesins are microtubule-associated motor proteins involved in in regulating microtubule dynamics in neuronal and non-neuronal cells. However, the axonal cytoskeleton-related pathological changes in peripheral nerve have never been described in patients with KIF5A mutation. This study aims to report sural biopsy to detect axonal cytoskeleton abnormalities in a patient with KIF5A-related Charcot-Marie-Tooth...

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Identifiers

PMID: 33155544
DOI: 10.5414/NP301323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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