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Distal myopathy with rimmed vacuoles in a case of opercular syndrome

✍ Scribed by Yoshitaka Toriumi; Yuichi Takusa; Atsushi Uchiyama; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi; Isematsu Eda; Ichizo Nishino; Ikuya Nonaka

Book ID
113498340
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
236 KB
Volume
28
Category
Article
ISSN
0387-7604

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πŸ“œ SIMILAR VOLUMES

Atypical Parkinsonism in distal myopathy
Atypical Parkinsonism in distal myopathy with rimmed vacuoles
✍ Tomohiko Ishihara; Tetsutaro Ozawa; Shuichi Igarashi; Yuko Kitsukawa; Masahito T πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 244 KB

## Abstract A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP‐__N__‐acetylglucosamine 2‐