Article
Choreoacanthocytosis in a Mexican family.
Archives of neurology - 1 Nov 2007
Ruiz-Sandoval José L, García-Navarro Víctor, Chiquete Erwin, Dobson-Stone Carol, Monaco Anthony P, Alvarez-Palazuelos Lucía E, Padilla-Martínez Juan J, Barrera-Chairez Esperanza, Rodríguez-Figueroa Erika I, Pérez-García Guillermo
Abstract excerpt
BACKGROUND: Choreoacanthocytosis (CHAC) (Online Mendelian Inheritance in Man accession No. 200150) is a hereditary neurodegenerative syndrome characterized by movement disorders, cognitive decline, myopathy, behavioral changes, and acanthocytosis and is caused by mutations in the VPS13A gene. OBJECTIVE: To describe the cases of 2 Mexican women with clinical and molecular characteristics compatible with CHAC....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
