Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
McLeod syndrome
VPS13A gene
XK gene
chorea-acanthocytosis
neuroacanthocytosis syndromes
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 02 2021
26 02 2021
Historique:
received:
30
12
2020
revised:
17
02
2021
accepted:
22
02
2021
entrez:
3
3
2021
pubmed:
4
3
2021
medline:
4
8
2021
Statut:
epublish
Résumé
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 through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the
Identifiants
pubmed: 33652783
pii: genes12030344
doi: 10.3390/genes12030344
pmc: PMC7996727
pii:
doi:
Substances chimiques
VPS13A protein, human
0
Vesicular Transport Proteins
0
Types de publication
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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