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J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4.

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

Author information

1
Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
2
Department of Neurology, Città della Salute e della Scienza University Hospital, Torino, Italy.
3
Department of Neurosciences 'Rita Levi Montalcini', University of Torino, Torino, Italy.
4
Department of Neurosciences and Mental Health, Città della Salute e della Scienza University Hospital, Torino, Piemonte, Italy.
5
Department of Medical Sciences, Laboratory of Immunogenetics, University of Torino, Torino, Italy.
6
San Raffaele Diabetes Research Institute (DRI), San Raffaele Hospital, Milano, Italy.
7
Department of Surgical Sciences, Eye Clinic, University of Torino, Torino, Italy.
8
Department of Neurosciences, Città della Salute e della Scienza University Hospital, Neuroradiology Unit, Torino, Italy.
9
Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy.
10
Département de Médecine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERMU964/Université de Strasbourg, Illkirch, France.
11
Laboratoire de cytogénétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

KEYWORDS:

CLCN2; ClC-2; LKPAT; intramyelinic edema; leukoencephalopathy

PMID:
28473625
DOI:
10.1136/jnnp-2016-315525

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