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
โฆ LIBER โฆ
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
โ Scribed by Lupski, James R.; Wise, Carol A.; Kuwano, Akira; Pentao, Liu; Parke, Julie T.; Glaze, Daniel G.; Ledbetter, David H.; Greenberg, Frank; Patel, Pragna I.
- Book ID
- 109915632
- Publisher
- Nature Publishing Group
- Year
- 1992
- Tongue
- English
- Weight
- 549 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1061-4036
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