1Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea
2Department of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea
3Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
4Department of Neurology, Seoul National University Hospital, Seoul, Korea
5Department of Neurology, Hallym University Sacred Heart Hospital, Anyang, Korea
6Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea
7Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Korea
8Department of Neurology, Gachon University Gil Hospital, Incheon, Korea
9Department of Neurology, Kangwon National University School of Medicine, Chuncheon, Korea
10Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea
11Department of Neurology, Pusan National University Hospital, Busan, Korea
12Department of Neurology, Dong-Eui Hospital, Busan, Korea
13Department of Neurology, Gangnam Severance Hospital, Seoul, Korea
14Department of Neurology, Korea University College of Medicine, Korea University Guro Hospital, Seoul, Korea
15Department of Neurology, Yonsei University College of Medicine, Seoul, Korea
16Department of Neurology, Yeungnam University Medical Center, Daegu, Korea
Copyright © 2016 The Korean Movement Disorder Society
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Atypical (n = 15*) |
Classic (n = 10) |
||||||
---|---|---|---|---|---|---|---|
Exon | Genomic DNA | Protein | No. | Exon | Genomic DNA | Protein | No. |
3 | c.1133A > G | p.D378G | 10 | 4 | c.1319G > C | p.R440P | 9 |
4 | c.1319G > C | p.R440P | 8 | 5 | c.1502T > A | p.I501N | 3 |
3 | c.1003A > G | p.K335E | 3 | 3 | c.1153delCinsTT | p.L385fs | 1 |
4 | c.1273_1275del | p.L425del | 2 | 4 | c.1273_1275del | p.L425del | 1 |
3 | c.1153delCinsTT | p.L385fs | 2 | 4 | c.1257del† | p.F419fs | 1 |
3 | c.1154_1155insTT | p.L385fs | 1 | 1 | c.391_418del | p.A131fs | 1 |
4 | c.1270_1272del | p.L424del | 1 | 7 | c.1676C > G† | p.A559G | 1 |
2 | c.823_824del | p.L275fs | 1 | 4 | c.1301C > T | p.A434V | 1 |
5 | c.1500_1501del | p.I501fs | 1 | 2 | c.852T > G | p.F284L | 1 |
4 | c.1351C > T | p.R451X | 1 | 2 to 4 | c.629-?_1412+ ?del‡ | 1 | |
6 | c.1607A > G | p.Y536C | 1 |