Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina, Olga; Orlova, Mariya; Murtazina, Aisylu; Filatova, Alexandra; Skoblov, Mikhail; Dadali, Elena

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina, Olga; Orlova, Mariya; Murtazina, Aisylu; Filatova, Alexandra; Skoblov, Mikhail; Dadali, Elena.

Shchagina O; Research Centre for Medical Genetics, Moscow 115522, Russia.
Orlova M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Murtazina A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Filatova A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Skoblov M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.

Int J Mol Sci ; 24(12)2023 Jun 06.

Article en En | MEDLINE | ID: mdl-37372933

Asunto(s)

Enfermedad de Charcot-Marie-Tooth; Humanos; Virulencia; Enfermedad de Charcot-Marie-Tooth/genética; Enfermedad de Charcot-Marie-Tooth/patología; Mutación del Sistema de Lectura; Codón sin Sentido; Mutación; Péptidos y Proteínas de Señalización Intracelular/genética; Proteína P0 de la Mielina/genética

Palabras clave

CMT; HMSN; MPZ; SH3TC2; gene panel; minigene assay; splicing variants

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article