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.
Original language | English |
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Pages (from-to) | 1003-1006 |
Number of pages | 4 |
Journal | Neurological Sciences |
Volume | 36 |
Issue number | 6 |
DOIs | |
Publication status | Published - Dec 30 2014 |
Keywords
- CMT2F
- Deafness
- HSP27
- Pyramidal signs
ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Dermatology