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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Pubblicato in:Neurol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975175/
https://ncbi.nlm.nih.gov/pubmed/32042921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000393
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