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Reducing bodies in distal myopathy with rimmed vacuole formation

✍ Scribed by Beatriz H. Kiyomoto; Nobuyuki Murakami; Jun Kishibayashi; Nobuhiko Sunohara; Ikuya Nonaka

Publisher
Springer-Verlag
Year
1995
Tongue
English
Weight
921 KB
Volume
89
Category
Article
ISSN
0001-6322

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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‐