Novel SGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease
✍ Scribed by Eun Joo Chung; Won Yong Lee; Ji-Youn Kim; Jong-Hun Kim; Gyeong-Moon Kim; Chang Seok Ki; In-Suk Kim
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 110 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0885-3185
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Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. Myoclonic movements of the arms and axial muscles are associated with dystonic movements of the neck and arms in more than 50% of the patients.
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