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Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred

Abstract:

Objective: Todetermine the molecular nature of the neurological disease in the seminal family reported by Critchley et al inthe 1960s, characterized by a hyperkineticmovement disorder and the appearance of acanthocytosis on peripheral blood smear. Theeponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. Design: DNA analysis. Setting: Molecular ...

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Publication status:
Published

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Publisher copy:
10.1001/archneurol.2011.239

Authors


Velayos-Baeza, A More by this author
Holinski-Feder, E More by this author
Critchley, EMR More by this author
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Volume:
26
Issue:
10
Pages:
S36-S36
Publication date:
2011-05-05
DOI:
EISSN:
1538-3687
ISSN:
0885-3185
URN:
uuid:c3f07aef-11e3-4aea-b893-deac225e9371
Source identifiers:
245521
Local pid:
pubs:245521

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