## Abstract A family with dystonia associated with dyschromatosis symmetrica hereditaria (DSH), mental deterioration, and tissue calcification is described. The proband possessed an adenosine deaminase acting on the RNA 1 gene (__ADAR1__) mutation Gly1007Arg. This __ADAR1__ mutation could disturb R
β¦ LIBER β¦
Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation
β Scribed by Eri Takeshita; Yoshiaki Saito; Eiji Nakagawa; Hirofumi Komaki; Kenji Sugai; Masayuki Sasaki; Atsuo Nezu; Junichi Kitamura; Masayuki Itoh; Yoshie Sawano; Yu-ichi Goto
- Book ID
- 119304146
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 595 KB
- Volume
- 308
- Category
- Article
- ISSN
- 0022-510X
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