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Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F, Fargeot G, Adams D, Attarian S, Cauquil C, Chanson JB, Créange A, Gendre T, Deiva K, Delmont E, Francou B, Genestet S, Kuntzer T, Latour P, Le Masson G, Magy L, Nardin C, Ochsner F, Sole G, Stojkovic T, Maisonobe T, Tard C, Van den Berghe P, Echaniz-Laguna A. Hauw F, et al. Eur J Neurol. 2021 Sep;28(9):2846-2854. doi: 10.1111/ene.14950. Epub 2021 Jun 23. Eur J Neurol. 2021. PMID: 34060689
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. Echaniz-Laguna A, et al. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027061 Free PMC article.
218 results