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

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

Abstract 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 neu...

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Bibliographic Details
Main Authors: Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51364

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https://doi.org/10.1002/acn3.51364

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