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Molecular and pathological studies in Charcot-Marie-Tooth disease 1A

✍ Scribed by Naoki Kozuka; Nobutada Tachi; Kazuhiro Ohya; Shunzo Chiba


Book ID
117545729
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
319 KB
Volume
19
Category
Article
ISSN
0387-7604

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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