Abstract
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 HSP27-related phenotype.
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Stancanelli, C., Fabrizi, G.M., Ferrarini, M. et al. Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. Neurol Sci 36, 1003–1006 (2015). https://doi.org/10.1007/s10072-014-2050-8
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DOI: https://doi.org/10.1007/s10072-014-2050-8