Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report

BACKGROUND: Individuals with variants of cytochrome c oxidase assembly factor 7 (COA7), a mitochondrial functional-related gene, exhibit symptoms of spinocerebellar ataxia with axonal neuropathy before the age of 20. However, COA7 variants with parkinsonism or adult-onset type cases have not been de...

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Detalles Bibliográficos
Autores principales: Ouchi, Shogo, Ishii, Kazuhiro, Kosaki, Kenjiro, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Tamaoka, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234071/
https://www.ncbi.nlm.nih.gov/pubmed/37264311
http://dx.doi.org/10.1186/s12883-023-03202-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234071/
https://www.ncbi.nlm.nih.gov/pubmed/37264311
http://dx.doi.org/10.1186/s12883-023-03202-w

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