Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously expanding. We conducted this study to demonstrate...

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Detalles Bibliográficos
Autores principales: Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui H., Yoshimura, Akiko, Higashi, Shuntaro, Takeuchi, Mika, Hobara, Takahiro, Kojima, Fumikazu, Noguchi, Yutaka, Takei, Jun, Hiramatsu, Yu, Nozuma, Satoshi, Sakiyama, Yusuke, Hashiguchi, Akihiro, Matsuura, Eiji, Okamoto, Yuji, Nagai, Masahiro, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9404689/
https://www.ncbi.nlm.nih.gov/pubmed/36034314
http://dx.doi.org/10.3389/fneur.2022.952493

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