期刊
NEUROLOGICAL SCIENCES
卷 36, 期 6, 页码 1003-1006出版社
SPRINGER-VERLAG ITALIA SRL
DOI: 10.1007/s10072-014-2050-8
关键词
HSP27; CMT2F; Pyramidal signs; Deafness
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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