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Mutation analysis of theGNEgene in Korean patients with distal myopathy with rimmed vacuoles

✍ Scribed by Byoung Joon Kim; Chang-Seok Ki; Jong-Won Kim; Duk Hyun Sung; Young-Chul Choi; Seung Hyun Kim


Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
79 KB
Volume
51
Category
Article
ISSN
1435-232X

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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‐