Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

Abstract Objective Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot‐Marie‐Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the phenotype of the HSPB1 c.407G>T (p.Arg136Leu) mutati...

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Main Authors: Lior Greenbaum, Merav Ben‐David, Vera Nikitin, Orna Gera, Ortal Barel, Adi Hersalis‐Eldar, Jana Shamash, Noam Shimshoviz, Haike Reznik‐Wolf, Mordechai Shohat, Dan Dominissini, Elon Pras, Amir Dori
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51362

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