Article
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Genes - 26 Feb 2021
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
Abstract excerpt
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 autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected...
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