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Article

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2015

Stancanelli Claudia, Fabrizi Gian Maria, Ferrarini Moreno, Cavallaro Tiziana, Taioli Federica, Di Leo Rita, Russo Massimo, Gentile Luca, Toscano Antonio, Vita Giuseppe, Mazzeo Anna

Abstract excerpt

Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of...

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PMID: 25547330
DOI: 10.1007/s10072-014-2050-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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