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Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene

✍ Scribed by Patel, Pragna I.


Book ID
122887572
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
774 KB
Volume
3
Category
Article
ISSN
0959-437X

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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