ClC-2

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
Elisa Giorgio, Giovanna Vaula, Paolo Benna, Nicola Lo Buono, Chiara Maria Eandi, Daniele Dino, Cecilia Mancini, Simona Cavalieri, Eleonora Di Gregorio, Elisa Pozzi, Marta Ferrero, Maria Teresa Giordana, Christel Depienne, Alfredo Brusco

Journal of Neurology, Neurosurgery & Psychiatry Oct 2017, 88 (10) 894-896; DOI: 10.1136/jnnp-2016-315525

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ClC-2