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

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

Abstract 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 rec...

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Bibliographic Details
Main Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime, Ahmed Bouhouche
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
Choreoacanthocytosis
VPS13A gene
Nonsense mutation
Online Access:http://link.springer.com/article/10.1186/s12881-020-0983-8

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http://link.springer.com/article/10.1186/s12881-020-0983-8

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