Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndro...

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Detalles Bibliográficos
Autores principales: Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, Taroni, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770815/
https://www.ncbi.nlm.nih.gov/pubmed/35069422
http://dx.doi.org/10.3389/fneur.2021.793547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770815/
https://www.ncbi.nlm.nih.gov/pubmed/35069422
http://dx.doi.org/10.3389/fneur.2021.793547

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