A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Inf...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Genetics and molecular biology 2020-01, Vol.43 (3), p.e20190325-e20190325, Article 20190325
Hauptverfasser:	Sanchez-Corona, Jose, Alberto Ramirez-Garcia, Sergio, Castaneda-Cisneros, Gema, Andrea Gutierrez-Rubio, Susan, Volpini, Victor, Sanchez-Garcia, Diana M., Elias Garcia-Ortiz, Jose, Garcia-Cruz, Diana
Format:	Artikel
Sprache:	eng
Schlagworte:	anticipation phenomenon Ataxin-2 gene autosomal dominant BIOCHEMISTRY & MOLECULAR BIOLOGY GENETICS & HEREDITY Human and Medical Genetics Life Sciences & Biomedicine Science & Technology spinocerebellar ataxia type 2 triplet expansion repeat
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!