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Article

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Annals of clinical and translational neurology - 1 May 2021

Abati Elena, Magri Stefania, Meneri Megi, Manenti Giulia, Velardo Daniele, Balistreri Francesca, Pisciotta Chiara, Saveri Paola, Bresolin Nereo, Comi Giacomo Pietro, Ronchi Dario, Pareyson Davide, Taroni Franco, Corti Stefania

Abstract excerpt

OBJECTIVE: This work aims to expand knowledge regarding the genetic spectrum of HSPB1-related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN). METHODS: Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations,...

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PMID: 33943041
DOI: 10.1002/acn3.51364
PMCID: PMC8108422

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