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A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia

✍ Scribed by Zhen, Changqing; Guo, Feng; Fang, Xiaosheng; Liu, Ying; Wang, Xin


Book ID
125351968
Publisher
Springer Milan
Year
2014
Tongue
English
Weight
717 KB
Volume
35
Category
Article
ISSN
1590-1874

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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‐