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

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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Bibliographic Details
Main Authors: Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, Anna Rita Bentivoglio, Serenella Servidei, Maria Gabriella Vita, Francesco Bove, Giulia Straccia, Clemente Dato, Giuseppe Di Iorio, Simone Sampaolo, Silvio Peluso, Anna De Rosa, Giuseppe De Michele, Melissa Barghigiani, Daniele Galatolo, Alessandra Tessa, Filippo Santorelli, Pietro Chiurazzi, Mariarosa Anna Beatrice Melone
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
neuroacanthocytosis syndromes
chorea-acanthocytosis
McLeod syndrome
<i>VPS13A</i> gene
<i>XK</i> gene
Online Access:https://www.mdpi.com/2073-4425/12/3/344

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https://www.mdpi.com/2073-4425/12/3/344

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