鲁西-列维综合征：一例基因型与表型相关性病例。 - Suppr

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

作者信息

Cioffi Ettore, Gioiosa Valeria, Serrao Mariano, Casali Carlo

机构信息

Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Via Faggiana 34, 04100, Latina, Italy.

出版信息

Neurol Sci. 2021 Oct;42(10):4357-4358. doi: 10.1007/s10072-021-05451-4. Epub 2021 Jul 7.

DOI:10.1007/s10072-021-05451-4

PMID:34232402

Abstract

摘要

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

Neurol Sci. 2021 Oct;42(10):4357-4358. doi: 10.1007/s10072-021-05451-4. Epub 2021 Jul 7.

Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

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Roussy-Levy hereditary areflexic dystasis presenting as Charcot-Marie-Tooth syndrome.

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[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].

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Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome.

Can J Neurol Sci. 1984 Nov;11(4 Suppl):534-40. doi: 10.1017/s0317167100035009.

[Autosomal-dominant motor-sensory neuropathy type I: intrafamilial polymorphism in the Roussy-Lévy syndrome].

Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(11):45-9.

[Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome].

Klin Padiatr. 1986 Mar-Apr;198(2):114-8. doi: 10.1055/s-2008-1026864.

A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

J Neurol. 2008 Sep;255(9):1417-8. doi: 10.1007/s00415-008-0896-5. Epub 2008 Jul 7.

Gabrielle Lévy and the Roussy-Lévy syndrome.

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本文引用的文献

Updating the classification of inherited neuropathies: Results of an international survey.

Neurology. 2018 Mar 6;90(10):e870-e876. doi: 10.1212/WNL.0000000000005074. Epub 2018 Feb 2.

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. 2003 Sep;10(5):547-9. doi: 10.1046/j.1468-1331.2003.00640.x.

The Roussy-Lévy family: from the original description to the gene.

Ann Neurol. 1999 Nov;46(5):770-3. doi: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u.

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Neuron. 1996 Sep;17(3):451-60. doi: 10.1016/s0896-6273(00)80177-4.

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

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