Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 (MORC2) gene have been described in several axonal p...

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Detalles Bibliográficos
Autores principales: Frongia, Ivana, Rizzi, Susanna, Baga, Margherita, Ceteroni, Laura Maria, Spagnoli, Carlotta, Salerno, Grazia Gabriella, Frattini, Daniele, Kaare, Milja, Pisani, Francesco, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8493287/
https://www.ncbi.nlm.nih.gov/pubmed/34630290
http://dx.doi.org/10.3389/fneur.2021.718808

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