Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Ikuo Masuho Mingyan Fang Chunyu Geng Jianguo Zhang Hui Jiang Riza Köksal Özgul Didem Yücel Yılmaz Dilek Yalnızoğlu Deniz Yüksel Anna Yarrow Angela Myers Sabrina C Burn Patricia L Crotwell Sergio Padilla-Lopez Ali Dursun Kirill A Martemyanov Michael C Kruer

Neurol Genet

Department of Neuroscience (I.M., K.A.M.), Scripps Research Institute, Jupiter, FL; Shenzhen Key Laboratory of Neurogenomics (M.F., J.Z.), BGI-Shenzhen (M.F., C.G., J.Z., H.J.), Shenzhen, China; Department of Pediatric Metabolism (R.K.Ö., D.Y.Y., A.D.), Institute of Child Health; Department of Pediatric Neurology (D. Yalnızoğlu), Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Neurology (D. Yüksel), Dr. Sami Ulus Maternity and Children's Research and Training Hospital, Ministry of Health, Ankara, Turkey; Sanford Children's Health Research Center (A.Y., A.M., S.C.B., P.L.C.), Sioux Falls, SD; Department of Child Health (S.P.-L., M.C.K.), University of Arizona College of Medicine, Phoenix, AZ; Movement Disorders Center and Neurogenetics Research Program (S.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; and Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ.

Published: June 2016

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866576	PMC
http://dx.doi.org/10.1212/NXG.0000000000000078	DOI Listing

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