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HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.

Folia medica Cracoviensia - 30 Dec 2023

Homa Katarzyna, Żur-Wyrozumska Kamila

Abstract excerpt

The heat-shock protein beta-1 (HSPB1) is one of small heat-shock proteins that play an important role in cell functioning by promoting correct folding of other proteins. The HSPB1 mutations are known to cause distal Hereditary Motor Neuropathy type 2B (dHMN2B) and Charcot-Marie-Tooth disease type 2F (CMT2F). More than 30 different mutations in the HSPB1 have been found in patients with CMT2F and dHMN2B. There are...

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Identifiers

PMID: 38578345
DOI: 10.24425/fmc.2023.148758

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