Article
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology - 9 Apr 2024
Sivera Rafael, Pelayo-Negro Ana L, Jericó Ivonne, Domínguez-González Cristina, Horga Alejandro, Rodriguez De Rivera Francisco J, Gallardo Elena, Tembl Jose Ignacio, Bermejo-Guerrero Laura, Pagola Lorz Maria Inmaculada, Azorín Inmaculada, Cordoba Marta, Fenollar-Cortés María Del Mar, Millet Elvira, Vilchez Juan J, Espinós Carmen, Apellániz-Ruiz María, Sevilla Teresa
Abstract excerpt
BACKGROUND AND OBJECTIVES: Germline truncating variants in the DRP2 gene (encoding dystrophin-related protein 2) cause the disruption of the periaxin-DRP2-dystroglycan complex and have been linked to Charcot-Marie-Tooth disease. However, the causality and the underlying phenotype of the genetic alterations are not clearly defined. METHODS: This cross-sectional retrospective observational study includes 9 patients...
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