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Distal myopathy with rimmed vacuoles

✍ Scribed by Ikuya Nonaka; Nobuyuki Murakami; Yume Suzuki; Mitsuru Kawai

Book ID
117670937
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
809 KB
Volume
8
Category
Article
ISSN
0960-8966

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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‐