𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distal myopathy with rimmed vacuoles and cerebellar atrophy

✍ Scribed by Hajnalka Merkli; Endre Pál; István Gáti; József Czopf

Publisher
Springer Netherlands
Year
2006
Tongue
English
Weight
729 KB
Volume
12
Category
Article
ISSN
1219-4956

No coin nor oath required. For personal study only.

📜 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 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 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‐