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Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

✍ Scribed by Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino


Publisher
Springer
Year
2005
Tongue
English
Weight
252 KB
Volume
5
Category
Article
ISSN
1528-4042

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Atypical Parkinsonism in distal myopathy
✍ 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‐