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Delineating MT-ATP6-associated disease

Stendel, C; Neuhofer, C; Floride, E; Shi, YQ; Ganetzky, RD; Park, J; Freisinger, P; Kornblum, C; Kleinle, S; Schols, L; Distelmaier, F; Stettner, GM; Buchner, B; Falk, MJ; Mayr, JA; Synofzik, M; Abicht, A; Haack, TB; Prokisch, H; Wortmann, SB; Murayama, K; Fang, F; Klopstock, T

Klopstock, T (corresponding author), German Ctr Neurodegenerat Dis DZNE, Munich, Germany.; Klopstock, T (corresponding author), Ludwig Maximilians Univ Munchen, Munich Cluster Syst Neurol SyNergy, Munich, Germany.

NEUROLOGY-GENETICS, 2020; 6 (1):

Abstract

Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. Methods W......

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