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Distal myophathy with rimmed vacuoles: a sporadic case

✍ Scribed by M. Santangelo; V. Miele; V. Lolli; A.P. Strafella; A. Tropeani; D. Lucchi; F. Valzania

Book ID
115871298
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
156 KB
Volume
98
Category
Article
ISSN
0013-4694

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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‐