Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

BACKGROUND AND OBJECTIVES: We investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD), with multiple affected members for 3 generations. METHODS: After excluding DNA repeat expansion (RE) of common SCD genes by fragment analysis...

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Detalles Bibliográficos
Autores principales: Watanabe, Kazuki, Nakashima, Mitsuko, Wakatsuki, Rie, Bunai, Tomoyasu, Ouchi, Yasuomi, Nakamura, Tomohiko, Miyajima, Hiroaki, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641967/
https://www.ncbi.nlm.nih.gov/pubmed/36381255
http://dx.doi.org/10.1212/NXG.0000000000000682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641967/
https://www.ncbi.nlm.nih.gov/pubmed/36381255
http://dx.doi.org/10.1212/NXG.0000000000000682

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