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.

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

STANCANELLI, CLAUDIA
Primo
;
DI LEO, RITA;RUSSO, MASSIMO;GENTILE, LUCA;TOSCANO, Antonio;VITA, Giuseppe
Penultimo
;
MAZZEO, Anna
Ultimo
2015

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3065156
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