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Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia

Adult-onset ataxias are a genetically and clinically heterogeneous group of movement disorders. In addition to nuclear gene mutations, sequence changes have also been described in the mitochondrial genome. Here, we present findings of mutation analysis of the mitochondrial gene MT-ATP6. We analyzed...

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Detalles Bibliográficos
Autores principales: Nolte, Dagmar, Kang, Jun-Suk, Hofmann, Amrei, Schwaab, Eva, Krämer, Heidrun H., Müller, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8563540/
https://www.ncbi.nlm.nih.gov/pubmed/34037856
http://dx.doi.org/10.1007/s00415-021-10607-5