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4. Charcot-Marie-Tooth neuropathy type 1a (CMT1a) is caused by a duplication in chromosome 17

โœ Scribed by De Jonghe, P.; Raeymaekers, P.; Timmerman, V.; Nelis, E.; Martin, J.J.; Van Broeckhoven, C.


Book ID
122783869
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
154 KB
Volume
94
Category
Article
ISSN
0303-8467

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Charcot-Marie-Tooth disease 1A (CMT1A) a
โœ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer ๐ŸŒ English โš– 340 KB

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