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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

✍ Scribed by Raeymaekers, P; Timmerman, V; Nelis, E; De Jonghe, P; Hoogenduk, J.E; Baas, F; Barker, D.F; Martin, J.J; De Visser, M; Bolhuis, P.A; Van Broeckhoven, C

Book ID
120998789
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
361 KB
Volume
1
Category
Article
ISSN
0960-8966

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Charcot-Marie-Tooth disease 1A (CMT1A) a
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We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond

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Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting

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