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