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Article

Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.

Journal of the peripheral nervous system : JPNS - 1 Sept 2023

Naruse Hiroya, Okubo So, Sudo Atsushi, Mitsui Jun, Mikata Takashi, Ishiura Hiroyuki, Morishita Shinichi, Tsuji Shoji, Toda Tatsushi

Abstract excerpt

BACKGROUND AND AIMS: Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot-Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu...

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PMID: 37249095
DOI: 10.1111/jns.12567

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