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A new locus for autosomal dominant Charcot-Marie-Tooth disease type

✍ Scribed by Bei-sha Tang; Wei Luo; Kun Xia; Jian-feng Xiao; Hong Jiang; Lu Shen; Jian-guang Tang; Guo-hua Zhao; Fang Cai; Qian Pan; He-ping Dai; Qi-dong Yang; Jia-hui Xia; OlegV. Evgrafov


Publisher
Springer
Year
2004
Tongue
English
Weight
558 KB
Volume
114
Category
Article
ISSN
0340-6717

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Atypical phenotype of Charcot–Marie–Toot
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Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe