𝔖 Bobbio Scriptorium
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P2.06 Distal myopathy with rimmed vacuoles presenting with slow progression

✍ Scribed by Y. Sakai; Y. Manabe; D. Fujii; S. Kono; H. Narai; N. Omori; K. Monma; I. Nishino; K. Abe

Book ID
116794508
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
38 KB
Volume
20
Category
Article
ISSN
0960-8966

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## 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‐