Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosom...

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Detalles Bibliográficos
Autores principales: Vaisfeld, Alessandro, Bruno, Giorgia, Petracca, Martina, Bentivoglio, Anna Rita, Servidei, Serenella, Vita, Maria Gabriella, Bove, Francesco, Straccia, Giulia, Dato, Clemente, Di Iorio, Giuseppe, Sampaolo, Simone, Peluso, Silvio, De Rosa, Anna, De Michele, Giuseppe, Barghigiani, Melissa, Galatolo, Daniele, Tessa, Alessandra, Santorelli, Filippo, Chiurazzi, Pietro, Melone, Mariarosa Anna Beatrice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996727/
https://www.ncbi.nlm.nih.gov/pubmed/33652783
http://dx.doi.org/10.3390/genes12030344

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