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

• मुख्य लेखकों: Fatima Ouchkat (लेखक), Wafaa Regragui (लेखक), Imane Smaili (लेखक), Hajar Naciri Darai (लेखक), Naima Bouslam (लेखक), Mounia Rahmani (लेखक), Adyl Melhaoui (लेखक), Yasser Arkha (लेखक), Elmostafa El Fahime (लेखक), Ahmed Bouhouche (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...