Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report

BACKGROUND: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive p...

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Detalles Bibliográficos
Autores principales: Ouchkat, Fatima, Regragui, Wafaa, Smaili, Imane, Naciri Darai, Hajar, Bouslam, Naima, Rahmani, Mounia, Melhaoui, Adyl, Arkha, Yasser, El Fahime, Elmostafa, Bouhouche, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057524/
https://www.ncbi.nlm.nih.gov/pubmed/32131761
http://dx.doi.org/10.1186/s12881-020-0983-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057524/
https://www.ncbi.nlm.nih.gov/pubmed/32131761
http://dx.doi.org/10.1186/s12881-020-0983-8

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