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Article

Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.

Journal of the neurological sciences - 15 Dec 2007

Ichiba Mio, Nakamura Masayuki, Kusumoto Akira, Mizuno Emiko, Kurano Yutaka, Matsuda Mieko, Kato Maiko, Agemura Asumi, Tomemori Yuko, Muroya Shinji, Nakabeppu Yoshiaki, Sano Akira

Abstract excerpt

BACKGROUND: Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. There are only few reports that studied clinical status of the obligate carriers of ChAc. Cli...

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Identifiers

PMID: 17673232
DOI: 10.1016/j.jns.2007.07.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17673232-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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