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Neurological Sciences

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01-10-2021 | Tremor | Letter to the Editor

Roussy-Lévy syndrome: a case of genotype–phenotype correlation

Authors: Ettore Cioffi, Valeria Gioiosa, Mariano Serrao, Carlo Casali

Published in: Neurological Sciences | Issue 10/2021

Excerpt

To the Editor …

Roussy G, Levy G (1926) Sept cas d’une maladie familiale particuliere: troubles de la marche, pieds bots et areflexie tendineuse generalisee, avec, accessoirement, legere maladresse des mains. Rev Neurol(Paris) 1:427–450

Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G (1999) The Roussy-Lévy family: from the original description to the gene. Ann Neurol 46(5):770–773. https://doi.org/10.1002/1531-8249(199911)46:5<770CrossRefPubMed

Online Mendelian Inheritance in Man, OMIM^®. Johns Hopkins University, Baltimore, MD. MIM Number: 159440: 11/27/2018: . World Wide Web URL: https://omim.org/entry/159440. Accessed 21 June 2021

Magy L, Mathis S, Le Masson G, Goizet C, Tazir M, Vallat JM (2018) Updating the classification of inherited neuropathies: results of an international survey. Neurology 90(10):e870–e876. https://doi.org/10.1212/WNL.0000000000005074CrossRefPubMed

Kochański A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I (2003) Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report. Eur J Neurol 10(5):547–549. https://doi.org/10.1046/j.1468-1331.2003.00640.xCrossRefPubMed

Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR (1996) Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17(3):451–460. https://doi.org/10.1016/s0896-6273(00)80177-4CrossRefPubMed

Title: Roussy-Lévy syndrome: a case of genotype–phenotype correlation
Authors: Ettore Cioffi
Valeria Gioiosa
Mariano Serrao
Carlo Casali
Publication date: 01-10-2021
Publisher: Springer International Publishing
Keyword: Tremor
Published in: Neurological Sciences / Issue 10/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05451-4

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Roussy-Lévy syndrome: a case of genotype–phenotype correlation

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