Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

Jose Felix Marti-Masso, Javier Ruiz-Martínez, Vladimir Makarov, Adolfo López De Munain, Ana Gorostidi, Alberto Bergareche, Seungtai Yoon, Joseph D. Buxbaum, Coro Paisán-Ruiz

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Medicine & Life Sciences