Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
por: Higuchi, Yujiro, et al.
Publicado: (2018) -
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
por: Suzuki, Hisato, et al.
Publicado: (2020) -
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
por: Watanabe, Keisuke, et al.
Publicado: (2022) -
Axonal inclusions in spinocerebellar ataxia type 3
por: Seidel, Kay, et al.
Publicado: (2010) -
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
por: Yamada, Mamiko, et al.
Publicado: (2020)