Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

OBJECTIVE: To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. METHODS: We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Eur...

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Detalles Bibliográficos
Autores principales: Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175/
https://www.ncbi.nlm.nih.gov/pubmed/32042921
http://dx.doi.org/10.1212/NXG.0000000000000393

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175/
https://www.ncbi.nlm.nih.gov/pubmed/32042921
http://dx.doi.org/10.1212/NXG.0000000000000393

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