A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

作者:Giorgio Elisa; Vaula Giovanna; Benna Paolo; Lo Buono Nicola; Eandi Chiara Maria; Dino Daniele; Mancini Cecilia; Cavalieri Simona; Di Gregorio Eleonora; Pozzi Elisa; Ferrero Marta; Giordana Maria Teresa; Depienne Christel; Brusco Alfredo*
来源:Journal of Neurology Neurosurgery and Psychiatry, 2017, 88(10): 895-897.
DOI:10.1136/jnnp-2016-315525