DNAJC12 and dopa-responsive nonprogressive parkinsonism

Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild in...

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Main Authors:	Straniero, L, Guella, I, Cilia, R, Parkkinen, L, Rimoldi, V, Young, A, Asselta, R, Soldà, G, Sossi, V, Stoessl, A, Priori, A, Nishioka, K, Hattori, N, Follett, J, Rajput, A, Blau, N, Pezzoli, G, Farrer, M, Goldwurm, S, Duga, S
Format:	Journal article
Published:	Wiley 2017

DNAJC12 and dopa-responsive nonprogressive parkinsonism

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