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Comparison of CMT1A and CMT2: similarities and differences

✍ Scribed by Henriette M.E. Bienfait; Camiel Verhamme; Ivo N. van Schaik; Johannes H.T.M. Koelman; Bram W. Ongerboer de Visser; Rob J. de Haan; Frank Baas; Baziel G.M. van Engelen; Marianne de Visser

Book ID: 106093373
Publisher: Springer
Year: 2006
Tongue: English
Weight: 159 KB
Volume: 253
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-006-0260-6

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Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover mediated by the CMT1A-REP repeat is a proposed me