New pathogenic mutation of chorea-acanthocytosis

Neurologia (Engl Ed). 2020 Mar;35(2):73-74. doi: 10.1016/j.nrl.2018.03.012. Epub 2018 May 8.

[Article in English, Spanish]

Authors

A Garrido-Fernández¹, S Santos-Lasaosa², E Bellosta-Diago², S Sáchez-Valiente²

Affiliations

¹ Departamento de Neurología, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España. Electronic address: [email protected].
² Departamento de Neurología, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.

PMID: 29752031
DOI: 10.1016/j.nrl.2018.03.012

No abstract available

Publication types

Editorial

MeSH terms

Abetalipoproteinemia / genetics*
Adult
Chorea / blood
Chorea / genetics*
Chorea / pathology*
Creatine Kinase
Humans
Male
Mutation*
Vesicular Transport Proteins / genetics*

Substances

VPS13A protein, human
Vesicular Transport Proteins
Creatine Kinase