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CMT1A duplication: refining the minimal adult phenotype

✍ Scribed by José Berciano; Elena Gallardo; Antonio García; César Ramón; Ignacio Mateo; Jon Infante; Eloy Rodríguez-Rodríguez; Onofre Combarros

Book ID
109116274
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
178 KB
Volume
13
Category
Article
ISSN
1085-9489

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The CMT1A-REP repeat is proposed to mediate unequal crossover leading to a 1.5 Mb duplication in chromosome 17p11.2-12 associated with Charcot-Marie-Tooth neuropathy type 1A (CMT1A). There is an apparent recombinational "hotspot" in the CMT1A-REP repeat since the majority of crossover breakpoints fo

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## Charcot -Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb regio